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Gale Encyclopedia of Genetic Disorder / Gale Encyclopedia of Genetic Disorders, Two Volume Set - Volume 2 - M-Z - I

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VASODILATOR A drug that relaxes blood vessel walls.

VECTORS Something used to transport genetic information to a cell.

VELLUS HAIRS The fine lighter-colored hairs that result from miniaturization.

VELO Derived from the latin word velum, meaning palate and back of the throat.

VENOUS THROMBOSIS A condition caused by the presence of a clot in the vein.

VENTILATOR Mechanical breathing machine.

VENTRAL WALL DEFECT An opening in the abdomen (ventral wall). Examples include omphalocele and gastroschisis.

VENTRICLE The fluid filled spaces in the center of the brain that hold cerebral spinal fluid.

VENTRICULAR SEPTAL DEFECT (VSD) An opening between the right and left ventricles of the heart.

VENTRICULOPERITONEAL SHUNT A tube equipped with a low pressure valve, one end is inserted into the lateral ventricles, the other end of which is routed into the peritoneum, or abdominal cavity.

VERMIS The central portion of the cerebellum, which divides the two hemispheres. It functions to monitor and control movement of the limbs, trunk, head, and eyes.

VERTEBRA One of the 23 bones that comprise the spine. Vertebrae is the plural form.

VERTEBRAL Related to the vertebrae.

VERY LONG CHAIN FATTY ACIDS (VLCFA) A type of fat that is normally broken down by the peroxisomes into other fats that can be used by the body.

VESTIBULAR NERVE The nerve that transmits the electrical signals collected in the inner ear to the brain. These signals, and the responses to them, help maintain balance.

VESTIBULAR SYSTEM A complex organ located inside the inner ear that sends messages to the brain about movement and body position. Allows people to maintain their balance when moving by sensing changes in their direction and speed.

VILLI Tiny, finger-like projections that enable the small intestine to absorb nutrients from food.

VISUAL ACUITY The ability to distinguish details and shapes of objects.

VISUAL CORTEX The area of the brain responsible for receiving visual stimuli from the eyes and integrating it to form a composite picture of an object.

VITAMIN DEFICIENCY Abnormally low levels of a vitamin in the body.

VOLUNTARY MUSCLE A muscle under conscious control, such as arm and leg muscles.

VOLVULUS A twisted loop of bowel, causing obstruction.

VON WILLEBRAND FACTOR (VWF) A protein found in the blood involved in the process of blood clotting.

I W

WEYERS ACROFACIAL DYSOSTOSIS The condition resulting from a mutation of the same gene that shows mutation in Ellis-van Creveld syndrome. As is usually the case when comparing expressions of the same gene mutation, the single dose Weyers acrofacial dysostosis presents milder symptoms than the double dose Ellis-van Creveld syndrome.

WHIPPLE PROCEDURE Surgical removal of the pancreas and surrounding areas including a portion of the small intestine, the duodenum.

WHITE BLOOD CELL A cell in the blood that helps fight infections.

WHITE MATTER A substance found in the brain and nervous system that protects nerves and allows messages to be sent to and from the brain to various parts of the body.

WILSON DISEASE A rare hereditary disease marked by high levels of copper deposits in the brain and liver. It can cause psychiatric symptoms resembling schizophrenia.

WOLFFIAN DUCTS Structures in the embryo that develop into epididymides, vasa deferentia, and seminal vesicles in males.

WORD SALAD Speech that is so disorganized that it makes no linguistic or grammatical sense.

I X

X CHROMOSOME One of the two sex chromosomes (the other is Y) containing genetic material that, among other things, determine a person’s gender.

X INACTIVATION Sometimes called “dosage compensation”. A normal process in which one X chromosome in every cell of every female is permanently inactivated.

Glossary

G A L E E N C Y C L O P E D I A O F G E N E T I C D I S O R D E R S

1309

Glossary

X RAY An image of the body made by the passing of radiation through the body.

X RAYS High energy radiation used either to diagnose or treat disease.

X-LINKED GENE A gene found on the X chromosome.

X-INACTIVATION A condition in which one of the X chromosomes of a female is suppressed, or “turned off,” in favor of the other X chromosome. Preferential X- inactivation is a process in which one X chromosome is inactivated in all the cells of the body, in preference to the other X chromosome. Females with preferential X-inac- tivation express X-linked traits as if they are hemizygous rather than homozygous or heterozygous.

X-LINKED Located on the X chromosome, one of the sex chromosomes. X-linked genes follow a characteristic pattern of inheritance from one generation to the next.

X-LINKED DOMINANT INHERITANCE The inheritance of a trait by the presence of a single gene on the X chromosome in a male or female, passed from an affected female who has the gene on one of her X chromosomes.

X-LINKED MENTAL RETARDATION Subaverage general intellectual functioning that originates during the developmental period and is associated with impairment in adaptive behavior. Pertains to genes on the X chromosome.

X-LINKED MUTATION An abnormal gene transmitted on the X chromosome.

X-LINKED RECESSIVE INHERITANCE The inheritance of a trait by the presence of a single gene on the X chromosome in a male, passed from his mother who has the gene on one of her X chromosomes. She is referred to as an unaffected carrier.

I Z

ZYGOTE The cell formed by the uniting of egg and sperm.

1310

G A L E E N C Y C L O P E D I A O F G E N E T I C D I S O R D E R S

INDEX

References to individual volumes are listed in boldface; numbers following a colon refer to page numbers. A boldface page number indicates the main essay for a topic. An italicized page number indicates a photo or illustration.

I A

A-beta amyloid protein, 1:66, 69 A-T (Ataxia-telangiectasia),

1:124–127, 2: 817–818

A-T mutated gene, 1:125–127 AAMI (Age-associated memory

impairment), 1:317, 319 Aarskog, Dagfinn, 1:1 Aarskog syndrome, 1:1–3 , 3 Aase syndrome, 1:3–5 ABCA1 gene, 2:1109–1112 ABCC6 gene, 2:966–967

Abdominal desmoid tumors, 1:410 Abdominal pain, 1:415–416 Abetalipoproteinemia (ABL), 1:5–7 Absence seizures

Aicardi syndrome, 1:40 epilepsy, 1:394

Acamprosate, 1:49, 53 Acanthocytes, 1:5 Acanthocytosis, 1:6 Acardia, 1:7–9 , 9 Acardiac twins, 1:8–9 Acardius acormus, 1:8 Acardius amorphus, 1:8 Acardius anceps, 1:8 Acardius cephalus, 1:8

Accutane embryopathy, 1:10–14 CHARGE syndrome and, 1:225

Accutane Pregnancy Prevention

Program (APPP), 1:12–13

ACE (Angiotensin-converting enzyme), 1:397–399

Acetyl-CoA, 2:735–737

Acetylcholine, 1:68–69

Acetylcysteine, 1:300 N-Acetylgalactosamine-6-sulfate

sulfatase (GALNS) galactosialodosis, 2:807–811 neuraminidase deficiency, 2:803

N-Acetylglucosamine-1-phosphatase deficiency (GNPTA), 2:751–753

N-Acetylglucosamine-4-sulfatase deficiency, 2:756

Achondrogenesis, 1:14–16 , 16 DTDST gene, type IB, 1:337 Stickler syndrome, 2:1094

Achondroplasia, 1:17–21 , 19–20 fibroblast growth factor receptor

mutations, 1:429 genetic testing, 1:475 skeletal dysplasia, 1:367

ACHOO syndrome, 1:21–23 , 22 Achromatopsia, 1:258

Acid maltase deficiency, 1:23–26 Acidosis, 1:25–26

ACPS. See Acrocephalopolysyndactyly disorders

Acquired immunity, 2:696 Acrocallosal syndrome, 1:26–28 , 28

Acrocephalopolysyndactyly disorders (ACPS)

Carpenter syndrome, 1:205 Pfeiffer syndrome, 2:914–917

Acromegaly, 1:29–32 , 31–32 McCune-Albright syndrome,

2:721–722 osteoporosis, 2:860–863

Acroparesthesias, 1:402 Activated Protein C, 1:404–405

Activin receptor-like kinase 1 gene, 2:851

Acute chest syndrome, 2:1051

Acute intermittent porphyria, 2:940–942

Acute myelogenous leukemia, 1:419

Acyl-CoA dehydrogenase deficiency, 2:843–846

AD3 gene defect, 1:66

Adams-Oliver syndrome (AOS),

1:33–34

ADD. See Attention-deficit disorder (ADD)

Addison disease, 1:36–37

Adducted clubfoot syndrome, 1:105–106

Adenocarcinoma defined, 1:192

pancreatic cancer, 2:877–880 Adenomas, 1:409

Adenomatous polyposis coli (APC). See Familial adenomatous polyposis

Adenosine deaminase deficiency, 1:465, 2:733–735

Adenosine triphosphate (ATP) pyruvate carboxylase deficiency,

2:970–972

pyruvate dehydrogenase complex deficiency, 2:972–975

Adenosyl-cobalamin, 2:738–740 Adenoviruses, 1:464

ADHD. See Attention-deficit hyperactivity disorder

Adopted children studies alcoholism genetics, 1:49 schizophrenia, 2:1024

ADP (ALA dehydrogenase deficiency porphyria), 2:940–941

Adrenal gland abnormalities, 2:1175–1177

Adrenal insufficiency, 1:36–37 Adrenalectomy, 1:265 Adrenocortical carcinoma, 1:665–666

Adrenocorticotropic hormone test, 1:264

Adrenoleukodystrophy (ALD),

1:35–38

Adrenomyeloneuropathy (AMN), 1:36–37

AdRP (Autosomal dominant retinitis pigmentosa), 2:989–990

Adult acid maltase deficiency, 1:24–25 Adult genetic counseling, 1:470

Adult GM1-gangliosidosis, 1:490 Adult hypophosphatasia, 1:589 Adult onset Leigh syndrome, 1:656 Aflatoxin, cancer risk and, 1:192 AFP. See Alpha-fetoprotein

African Americans

galactokinase deficiency, 1:448–449

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

1311

Index

African Americans (cont’d) pancreatic cancer, 2:878 prostate cancer, 2:957–959

Age, maternal. See Maternal age

Age-associated memory impairment (AAIM), 1:317, 319

Age-related macular degeneration,

2:691–695 , 694

Agenesis of corpus callosum with chorioretinal abnormality, 1:39–41 ,

41, 1:494 Agoraphobia, 2:881–882 Aicardi, Jean, 1:38

Aicardi syndrome, 1:39–41 , 41, 1:494

AIDS

dementia with, 1:319 gene therapy, 1:466

AIS (Androgen insensitivity syndrome), 1:83–86 , 84

AKU (Alkaptonuria), 1:55–60 , 59

ALA dehydrogenase deficiency porphyria (ADP), 2:940–941

Alagille syndrome, 1:41–43

Albinism, 1:44–47 , 45–46 Chediak-Higashi syndrome, 1:226 Griscelli syndrome, 1:499

Alcohol abuse. See Alcoholism Alcohol dependence. See Alcoholism

Alcohol Use Disorder Identification Test (AUDIT), 1:52

Alcoholics Anonymous, 1:53

Alcoholism, 1:47–54 , 51, 53 ADHD, 1:129

amelia, 1:71

cancer demographics, 1:190 characteristics, 1:48

cleft lip and palate, 1:241 color blindness, 1:258 dementia, 1:65, 316

fetal alcohol syndrome, 1:422–425 genetic profile, 1:48–50, 1:53 hyperlipoproteinemia, 1:583–584 liver cancer, 1:681

teratogens, 2:1117

ALD (Adrenoleukodystrophy),

1:35–38

Aldehyde dehydrogenase deficiency, 1:49–50

ALDH2 gene, 1:49–50 Aldosterone, 1:261–262, 265 Aldrich, R. A., 2:1202 Alendronate, 2:862–863 Alexander’s disease, 1:663 Alkaline compounds, 1:57 Alkaline phosphatase, 1:587–588 Alkaptonuria (AKU), 1:55–60 , 59

Alleles

chromosome structure and number, 1:239

gene pool, 1:460 gene structure, 1:455

genetic disorders, 1:473 insulin-dependent diabetes mellitus,

1:329, 331

Allen Brown criteria, 2:980

Allergy

ACHOO syndrome, 1:22 asthma, 1:117, 120–123

Alopecia areata, 1:505–506, 1:507 Alpha-1 antitrypsin (ATT), 1:61–64

Alpha-fetoprotein (AFP) amniocentesis, 1:74, 76 anencephaly, 1:89–90 ataxia-telangiectasia, 1:125 Beckwith-Wiedemann syndrome,

1:149

genetic counseling, 1:469 liver cancer, 1:679

maternal serum test, 1:351, 2:1147 Meckel-Gruber syndrome, 2:728 oligohydramnios sequence, 2:830 omphalocele, 2:831

Alpha-galactosidase A, 1:401

Alpha-L-iduronidase

Hurler syndrome, 1:572–574 MPS I deficiency, 2:754

Alpha-mannosidosis, 2:704–706

Alpha-N-acetylneuraminidase, 2:807–811

Alpha thalassemia, 2:1119–1126

ALS (Amyotrophic lateral sclerosis), 1:79–82, 1:80–81

Alternative therapies, in cancer management, 1:198

Altmann, Richard, 1:342

Alzheimer, Alois, 1:65

Alzheimer disease, 1:65–69 , 66–68 color blindness, 1:258 dementia, 1:316–318

Down syndrome, 1:350 nephrogenic diabetes insipidus,

2:795

presymptomatic testing, 1:478 stromal dystrophies, 1:276 Werner syndrome, 2:1193

Amastia, ectodermal dysplasia, 1:373–374

AMC (Arthrogryposis multiplex congenita), 1:104–108, 1: 340

Amelia, 1:70–73

Amelogenesis imperfecta, 1:260–261

American Academy of Pediatrics’ Committee on Genetics, 1:17, 19

American Cancer Society, on cancer warning signs, 1:191

American College of Obstetricians and Gynecologists, 1:74

American Optical/Hardy, Rand, and Ritter Pseudoisochromatic test, 1:259

Amine precursor and uptake decarboxylase system, 2:763–767

Amino acids, 1:57, 2:843–846

Aminolevulinate dehydratase gene, 2:941

Aminopterin syndrome, 1:285

Ammonia, urea cycle disorders, 2:1159–1160

AMN (Adrenomyeloneuropathy), 1:36–37

Amniocentesis, 1:73–79 , 77 acardia, 1:8–9 achondroplasia, 1:18–19 adrenoleukodystrophy, 1:38 Alagille syndrome, 1:42–43 albinism disorders, 1:46 Apert syndrome, 1:97–98 Beals syndrome, 1:142–143

Beckwith-Wiedemann syndrome, 1:147–148

biotinidase deficiency, 1:158 Bruton agammaglobulinemia, 1:179 campomelic dysplasia, 1:184–185 Canavan disease, 1:188 Charcot-Marie-Tooth disease, 1:221 chromosomal abnormalities, 1:238 clubfoot, 1:245

congenital adrenal hyperplasia, 1:264

cri du chat syndrome, 1:291 Crouzon syndrome, 1:293 cystic fibrosis, 1:299 cystinosis, 1:303 diastrophic dysplasia, 1:339 Down syndrome, 1:351

Duchenne muscular dystrophy, 1:363

Emery-Dreifuss muscular dystrophy, 1:386

Fabry disease, 1:403 Friedreich ataxia, 1:440 FSH muscular dystrophy,

1:445–446

genetic counseling, 1:469 GM1-gangliosidosis, 1:490 harlequin fetus, 1:514 hypochondroplasia, 1:586–587 hypophosphatasia, 1:590 Jacobsen syndrome, 1:617 Leigh syndrome, 1:657 neurofibromatosis, 2:813 omphalocele, 2:831 osteogenesis imperfecta, 2:859 preparation and risk, 1:480 sickle cell disease, 2:1052 side effects, 1:74–76

Sjögren-Larsson syndrome, 2:1063 Smith-Lemli-Opitz syndrome,

2:1067

XX male syndrome, 2:1220 XYY syndrome, 2:1223

Amnion amelia, 1:71

1312

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

amniocentesis, 1:75

Amsterdam Dwarf Syndrome of de Lange, 1:252, 1:278–282

Amyloid precursor protein gene (APP),

1:66

Amyloidosis

familial Mediterranean fever, 1:416 nephrogenic diabetes insipidus,

2:794 Amyoplasia, 1:105–106

Amyotrophic lateral sclerosis (ALS),

1:79–82 , 80–81

Anagen effluvium, 1:505 Anal atresia, 2:1169–1172 Anderson, William, 1:401

Androgen insensitivity syndrome (AIS), 1:83–86 , 84

Androgen receptor, 1:84

Androgenetic alopecia, 1:503–504, 506, 1:507

Androgens, 1:261–262

Anemia

beta thalassemia, 1:151–152 Gaucher disease, 1:453–454 hereditary spherocytosis, 2:1077 Osler-Weber-Rendu syndrome,

2:852–853

sickle cell disease, 2:1050–1051 sideroblastic X-linked, 1:86–89

Anencephaly, 1:89, 89–90, 1:387 characteristics, 2:800–801, 801 management, 2:802 multifactorial inheritance,

2:761–762

Aneuploidy acardia, 1:8

chromosomal alterations, 1:233–235

sex chromosomes, 1:234–235 trisomy 18, 2:1144–1145

Angelman syndrome, 1:90–93 , 91 chromosomal deletions, 1:236–237 Prader-Willi syndrome, 2:946

Angiokeratoma, 1:402

Angiosarcoma, 1:39, 41

Angiotensin-converting enzyme (ACE), 1:397–399

Angiotensin-renin-aldosterone system, 1:397–398

Ankylosing spondylitis, 1:94–96 , 95 Ankyrin, 2:1076

Anomalous venous return, 1:112, 114 Anosmia, 1:627

Anterior corneal dystrophy, 1:276 Anterior encephalocele, 1:387

Anthropologic studies, human leukocyte antigen, 2:699–700

Anti-elastase, 1:61–64 Antibiotics, overuse, 1:119

Anticholinergic drugs, Parkinson disease, 2:887

Anticraving medications, 1:53

Antidepressants, tricyclic. See Tricyclic antidepressants

Antinuclear antibody test, 2:1033 Antiphospholipid antibodies, 1:214

Antipsychotic medications schizophrenia, 2:1026–1027 Tourette syndrome, 2:1139

Antitrypsin protein, alpha-1 antitrypsin, 1:63–64

Aortic enlargement, Marfan syndrome, 2:707–708

Aortic regurgitation

bicuspid aortic valve, 1:154–156 Marfan syndrome, 2:708

Aortic stenosis, 1:154–156

AOS (Adams-Oliver syndrome),

1:33–34

AP3 molecule, 1:550–551 APA antibodies, 1:214 AP3B1 gene, 1:550–551

APC gene

familial adenomatous polyposis, 1:408–409

hereditary colorectal cancer, 1:531–533

hereditary desmoid disease, 1:534–535

stomach cancer, 2:1099 Apert, E., 1:97

Apert syndrome, 1:97–100 , 98–99 craniosynostosis, 1:287 fibroblast growth factor receptor

mutations, 1:429–430 Jackson-Weiss syndrome,

1:613–615

Aplasia cutis congenita (ACC), 1:34 Aplastic anemia, 1:417–419

Apolipoprotein E gene

Alzheimer disease genetics, 1:66 late-onset Alzheimer disease, 1:316

APP (Amyloid precursor protein), 1:66

APPP (Accutane Pregnancy Prevention Program), 1:12–13

Aquaporin-2, nephrogenic diabetes insipidus, 2:794–795

AR gene, Kennedy disease, 1:635

ArCRD (Autosomal recessive cone-rod dystrophy), 1:260

Ariginase deficiency, 1:101–102 , 102

Arnold-Chiari malformation, 1:102,

1:103–104

Arrhinencephaly. See

Holoprosencephaly

Arrhythmias

holoprosencephaly, 1:558–559

Jervell and Lange-Nielsen syndrome, 1:618–620

long-QT syndrome, 1:681–686

ArRP (Autosomal recessive retinitis pigmentosa), 2:989–990

Arterial switch, 1:269 Arteriohepatic dysplasia, 1:41–43 Arteriosclerosis, 2:1111

Arteriovenous malformations, 2:850–853, 2:853

Arthritis, 1:58–59, 94, 2:979, 1155–1156

See also Osteoarthritis Arthrochalasia, 1:378–379

Arthrogryposis multiplex congenita (AMC), 1:104–108, 1: 340

Arthropathy-camptodactyly-pericarditis syndrome, 1:105–106

Arthropathy-camptodactyly syndrome,

1:108–109

Artificial insemination, 2:1229

Artificial reproductive technology, 2:1229

AS. See Asperger syndrome

Ashkenazi Jews

Bloom syndrome, 1:165–166 Canavan disease, 1:187–188 early onset idiopathic torsion

dystonia, 1:370

familial dysautonomia, 1:412–413 Fanconi anemia, 1:418–420 Gaucher disease, 1:453–454 Niemann-Pick disease, 2:814–816 Tay-Sachs disease, 2:1115–1116

ASPA gene, 1:186–188 Aspartate transaminase, 1:63 Aspartic acid, 2:972

Aspartoacylase deficiency, 1:185–188 Asperger, Hans, 1:109

Asperger syndrome (AS), 1:109–111 autism and, 1:130 characteristics, 2:907

Asphyxiating thoracic dysplasia (ATD), 1:382

Aspiration, amyotrophic lateral sclerosis, 1:79

Asplenia, 1:112–115, 1: 630–632 Associated choroideremia, 1:230

Asthma, 1:115–123 , 119 allergies and, 1:120–121 alpha-1 antitrypsin, 1:62

Astrocytoma, 1:192

Ataxia abetalipoproteinemia, 1:6 cerebellar, 1:124

dentatorubral-pallidoluysian atrophy, 1:321–323

Friedreich (See Friedreich ataxia) Niemann-Pick disease, 2:815

Index

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

1313

Index

Ataxia (cont’d)

spinocerebellar, 2:1084–1087

Ataxia-telangiectasia (A-T),

1:124–127, 2: 817–818

ATD (Asphyxiating thoracic dysplasia), 1:382

Atelosteogenesis type 2 (AO-2), 1:337 Atherosclerosis, 1:582–584 Athetosis, 1:215–216

Atopic asthma, 1:117

ATP. See Adenosine triphosphate

ATP-binding cassette transporter, 2:692–695

ATP7A gene, 2:729 ATP7B gene, 2:1199

Atrial septal defect asplenia, 1:112, 114 characteristics, 1:267

Cornelia de Lange syndrome, 1:279 Holt-Oram syndrome, 1:560–561

Atrophic gastritis, 1:192 ATRX gene, 2:1064–1065

ATT (Alpha-1 antitrypsin), 1:61–64

Attention-deficit disorder (ADD) Asperger syndrome, 1:110 Tourette syndrome, 2:1138

Attention-deficit hyperactivity disorder (ADHD), 1:129, 127–129

Cohen syndrome, 1:254 Marfan syndrome, 2:707 MCAD deficiency, 2:718 Sturge-Weber syndrome,

2:1104–1105

AUDIT (Alcohol Use Disorder Identification Test), 1:52

Autism, 1:130–134 characteristics, 1:130–131,

2:907–910

Cohen syndrome, 1:254 diagnostic criteria, 1:132–134 fragile X syndrome, 1:433 high-functioning, 1:109–110 Rett syndrome, 2:995

Autism Research Institute, 2:909 Autistic psychopathy, 1:109 Autistic spectrum disorders, 1:109 Autohemolysis test, 2:1143

Autoimmune disorders celiac disease, 1:208

major histocompatibility complex, 2:699

myasthenia gravis, 2:776–779 scleroderma, 2:1031–1034

Autonomic nervous system, 1:412–413

Autosomal dominant compelling heliopthalmic outburst syndrome,

1:21–23 , 22

Autosomal dominant inheritance acromegaly, 1:32

Adams-Oliver syndrome, 1:33 Alagille syndrome, 1:41 Alzheimer disease, 1:66 amelia, 1:71

amyotrophic lateral sclerosis, 1:80 anemia, sideroblastic X-linked, 1:87 Beare-Stevenson cutis gyrata

syndrome, 1:144 brachydactyly, 1:169 characteristics, 1:606–607

Charcot-Marie-Tooth disease, 1:220 CHARGE syndrome, 1:223 coloboma, 1:256

Costello syndrome, 1:283–285 Ehlers-Danlos syndrome, 1:376 Emery-Dreifuss muscular dystrophy

2, 1:384–385 Engelmann disease, 1:390

familial adenomatous polyposis, 1:408

fibroblast growth factor receptor mutations, 1:428–430

Freeman-Sheldon syndrome, 1:437–438

FSH muscular dystrophy, 1:444–446

gene pool, 1:461 glaucoma, 1:484 hereditary spherocytosis,

2:1075–1076 hyperlipoproteinemia, 1:583 hypophosphatasia, 1:588 Jackson-Weiss syndrome,

1:613–615

Kallman syndrome, 1:627 Li-Fraumeni syndrome, 1:665–666 long-QT syndrome, 1:682–683 malignant hyperthermia, 2:701–702 multiple endocrine neoplasias,

2:765

myotonic dystrophy, 2:786 oncogenes, 2:836

Opitz syndrome, 2:837–838 osteogenesis imperfecta, 2:856–858 Pallister-Hall syndrome, 2:873 pedigree analysis, 2:897

polycystic kidney disease, 2:931–932

progeria syndrome, 2:953 Rieger syndrome, 2:1001–1003

Robinow syndrome, 2:1007–1009 Saethre-Chotzen syndrome, 2:1019 spinocerebellar ataxia, 2:1085 thanatophoric dysplasia, 2:1131 Treacher Collins syndrome, 2:1140 triose phosphate isomerase

deficiency, 2:1142–1144

Van der Woude syndrome, 2:1167

Autosomal dominant retinitis pigmentosa (AdRP), 2:989–990

Autosomal recessive cone-rod dystrophy (ArCRD), 1:260

Autosomal recessive inheritance Aase syndrome, 1:4

achondrogenesis, 1:14–15 acrocallosal syndrome, 1:27 Adams-Oliver syndrome, 1:33 alkaptonuria, 1:55–57 alpha-1 antitrypsin, 1:61–62 Apert syndrome, 1:100 Bardet-Biedl syndrome, 1:137 biotinidase deficiency, 1:158 carnitine palmitoyltransferase

deficiency, 1:202–203 characteristics, 1:607 Charcot-Marie-Tooth disease,

1:220–221

congenital adrenal hyperplasia, 1:262

Crane-Heise syndrome, 1:285–286 cystinuria, 1:305–307

Dubowitz syndrome, 1:357–359 Ehlers-Danlos syndrome, 1:376 Ellis-van Creveld syndrome,

1:381–383

Emery-Dreifuss muscular dystrophy 3, 1:385

familial Mediterranean fever, 1:414–415

Fanconi anemia, 1:418 Fanconi-Bickel syndrome, 1:420 Fraser syndrome, 1:434

gene pool, 1:461 glaucoma, 1:484

hydrolethalus syndrome, 1:578–579 hyperlipoproteinemia, 1:582–583 infantile refsum disease, 1:604–605 Joubert syndrome, 1:621

Kallman syndrome, 1:628 Leigh syndrome, 1:655 Meckel-Gruber syndrome, 2:727 metaphyseal dysplasia, 2:733 mucolipidosis, 2:752

muscular dystrophy, 2:770 Neu-Laxova syndrome, 2:797–798 neuraminidase deficiency, 2:804 organic acidemias, 2:843–844 pancreatic beta cell agenesis,

2:875–876

pedigree analysis, 2:897–898 Pendred syndrome, 2:903–904 polycystic kidney disease,

2:931–932

Robinow syndrome, 2:1008–1009 Schinzel-Giedion syndrome, 2:1022 Seckel syndrome, 2:1039

severe combined immunodeficiency, 2:1042–1043

Sjögren-Larsson syndrome, 2:1061–1062

Smith-Lemli-Opitz syndrome, 2:1066–1068

spinal muscular atrophy, 2:1083 Usher syndrome, 2:1163 Wilson disease, 2:1199 Wolman disease, 2:1208–1210

Autosomal recessive retinitis pigmentosa (ArRP), 2:989–990

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GALE ENCYCLOPEDIA OF GENETIC DISORDERS

Autosomal semi-dominant inheritance, 1:607

Axenfeld anomaly, Rieger syndrome, 2:1003

Azorean disease, 1:135–136

I B

B cells, Bruton agammaglobulinemia, 1:178–179

Baclofen (Lioresal), 1:217 Bacterial infections, hair loss, 1:505

BADS (Black locks albinism deafness syndrome), 1:45

Baller-Gerold syndrome, amelia, 1:70 Balloon arterial septostomy, 1:269 Balloon valvuloplasty, 1:269

Band 3 mutations, hereditary spherocytosis, 2:1076–1077 Bardet-Biedl syndrome (BBS),

1:137–139, 2: 723

Barrett’s esophagus, Cornelia de Lange syndrome, 1:279

Bart’s test, genetic disorders, 1:473 Bassen-Kornzweig syndrome, 1:5–7 Bateson, William, 1:55

Batten disease, 1:139–141 , 141 Bayes’ theorem, genetic disorders,

1:473–474

Baylor College of Medicine, 1:565–566

BBB syndrome, 2:837–840 , 840 BBS (Bardet-Biedl syndrome),

1:137–139, 1: 723

BDS (Blackfan-Diamond syndrome),

1:4

Beals contractual arachnodactyly,

1:141–143

Beals syndrome, 1:141–143 Bean, William, 1:166 Beare-Stevenson cutis gyrata

syndrome, 1:144–146 , 145 Becker muscular dystrophy (BMD)

classification, 1:359, 2:769 diagnosis, 1:362–363 genetic profile, 1:359–360,

2:770–771

preventive measures, 1:363 prognosis, 1:364

signs and symptoms, 1:361–362, 2:773

Beckwith-Wiedemann syndrome (BWS), 1:146–149

hemihypertrophy, 1:516 omphalocele, 2:831

Beemer-Langer syndrome, 2:1045 Benign non-nephropathic cystinosis,

1:302

Benign prostatic hyperplasia (BPH), 1:192

Benzodiazepines, 2:883 Benzoquinone acetic acid, 1:57 Bernard-Soulier syndrome, 2:1037

Beta-blockers

long-QT syndrome, 1:686 Marfan syndrome, 2:710

Beta galactosidase galactosialodosis, 2:810 GM1-gangliosidosis, 1:488–490 Morquio syndrome type B, 2:756 neuraminidase deficiency and,

2:807–811

Beta globin gene

beta thalassemia, 1:150, 2:1121–1122

sickle cell disease, 2:1049

Beta glucuronidase, Sly disease, 2:756 Beta ketothiolasae deficiency, 2:845 Beta-mannosidosis, 2:704–706

Beta thalassemia, 1:149–153 characteristics, 2:1119 classification, 1:150–153 genetics, 2:1121–1122 prevalence, 2:1121 symptoms, 2:1123–1124 treatment, 2:1125

Betalipoproteins, 1:5

Bi-Pap (Biphasic Positive Airway Pressure), 2:1083

Bickel, Horst, 1:420–421

Bicoronal craniosynostosis, 1:287–288

Bicuspid aortic valve, 1:153–157 , 156, 1:266–267

BIGH3 gene, corneal dystrophy, 1:275 Bilateral breast cancer, 1:192

Binge drinkers, alcoholism and, 1:48

Biochemical analysis hypophosphatasia, 1:589–590 Leigh syndrome, 1:656–657 rhizomelic chondrodysplasia

punctata, 2:998–999

Biofeedback, Raynaud disease, 2:981–982

Biopsy

chondrosarcoma, 1:228 Gaucher disease, 1:454 liver, 1:519–520, 679 muscle, 1:362–363, 2:774 prostate cancer, 2:959

Biotinidase deficiency, 1:157–159 , 158, 2:845, 846

Bipolar disorder, 1:160–162 Asperger syndrome, 1:109 characteristics, 1:324 Fahr disease, 1:406

type II, 1:160–162

Birth asphyxia, cerebral palsy, 1:214

Birth defect, 2:1229

Black locks albinism deafness syndrome (BADS), 1:45

Blackfan-Diamond syndrome (BDS),

1:4

Bleomycin, scleroderma from, 2:1032

Blindness

Aicardi syndrome, 1:40 color (See Color blindness) Fraser syndrome, 1:434–436 glaucoma, 1:484

Lebers hereditary optic atrophy, 1:654

retinitis pigmentosa, 2:989–991 BLM gene, 1:163

Blood alcohol concentration, 1:51–52

Blood coagulation disorders. See Clotting disorders

Blood pressure, 1:397–398, 2:933–934

Blood transfusion

beta thalassemia, 1:152–153 sickle cell disease, 2:1054 thrombasthenia of Glanzmann and

Naegli, 2:1135–1136 Bloom, D., 1:163

Bloom syndrome (BS), 1:163–166 ,

164, 1:248

Blue rubber bleb nevus syndrome (BRBNS), 1:166–167

BMD. See Becker muscular dystrophy Bone cancer, 1:228–229

Bone marrow transplantation adrenoleukodystrophy, 1:37–38 beta thalassemia, 1:152–153 cancer management, 1:197–198 Hurler syndrome, 1:574

severe combined immunodeficiency, 2:1043

sickle cell disease, 2:1055 thrombasthenia of Glanzmann and

Naegli, 2:1135–1136 Bone mineral density test, 2:861

Bone morphogenetic proteins, 1:557

BOR (Branchiootorenal syndrome),

1:170–173 , 172

Borjeson-Forssman-Lehman syndrome, 2:988

Botulinum toxin (Botox), 1:217

BPH (Benign prostatic hyperplasia), 1:192

Brachmann-de Lange syndrome, 1:252,

1:278–282

Brachycephaly, 1:287–288

Brachydactyly, 1:167–170 Adams-Oliver syndrome, 1:33 Bardet-Biedl syndrome, 1:138 Bell classification, 1:168–169 diastrophic dysplasia, 1:338 otopalatodigital syndrome, 2:863 Stickler syndrome, 2:1094–1095

Index

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

1315

Index

Brain tumors

Aicardi syndrome, 1:39 Li-Fraumeni syndrome, 1:665–666

Branchiootorenal syndrome (BOR),

1:170–173 , 172

BRBNS (Blue rubber bleb nevus syndrome), 1:166–167

BRCA1 gene

breast cancer, 1:174–176 genetic counseling, 1:470 ovarian cancer, 2:866–868 susceptibility testing, 1:479

BRCA2 gene

breast cancer, 1:174–176 cancer risk and, 1:192 genetic counseling, 1:470 ovarian cancer, 2:866–868 pancreatic cancer, 2:877–878 susceptibility testing, 1:479

Breast cancer, 1:173–178 , 177 ataxia-telangiectasia and, 1:125 bilateral, 1:192

examination techniques, 1:173 hereditary component, 1:189 Li-Fraumeni syndrome, 1:665–666 multifocal, 1:194

Breast self examination, 1:173, 177, 192

British Association for Spina Bifida and Hydrocephalus, 1:576

Bromocriptine, 1:31–32

Bronchial drainage, cystic fibrosis, 1:300

Bronchodilators

asthma management, 1:122 cystic fibrosis, 1:300

Bruch’s membrane, 2:965–968 Brugada syndrome, 1:267 Bruton, Ogden C., 1:178

Bruton agammaglobulinemia,

1:178–181

Bruton tyrosine kinase gene, 1:178–179

Bulbar muscles, 1:79, 81

Burkholderia cepacia, 1:300

Butterfly vertebra, Alagille syndrome,

1:43

BWS. See Beckwith-Wiedemann syndrome

I C

C1-INH protein, 1:527–529 c-myc proto-oncogene, 2:835

CADASIL

leukodystsrophy, 1:662–663 multi-infarct dementia, 1:316

Café au lait spots, 2:721

Caffeine halothane contracture test, 2:703

CAG repeats

Huntington disease, 1:569–571 Kennedy disease, 1:635 spinocerebellar ataxia, 2:1084

CAGE test, 1:52

CAH (Congenital adrenal hyperplasia),

1:261–265

CAH21 gene, 1:262 Calcification, alkaptonuria, 1:57

Calcitonin, osteoporosis, 2:862–863

Calcium

Fahr disease, 1:406 hypophosphatemia, 1:592–593 malignant hyperthermia, 2:701 Williams syndrome, 2:1197–1198

Campomelic dysplasia, 1:183–185 Camptodactyly, 1:105

Camurati-Engelmann disease,

1:389–391

Canadian early and mid-trimester amniocentesis trial, 1:77–78

Canavan, Myrtelle, 1:185 Canavan disease, 1:185–188

Cancer, 1:189–198 , 196–197 ataxia-telangiectasia and, 1:125 breast (See Breast cancer) celiac disease and, 1:209

childhood, 1:196, 196, 2:991–994 chromosomal abnormalities, 1:236 classification, 1:189–190

colon, 1:189

colorectal, 1:408–409, 530–533 Costello syndrome and, 1:285 dysplasia and, 1:365

familial adenomatous polyposis, 1:409–410

Fanconi anemia and, 1:417 genetic counseling, 1:469–470 genetic testing, 1:474, 480 Li-Fraumeni syndrome, 1:665–667 liver (See Liver cancer) Muir-Torre syndrome, 2:757–760 oncogenesis, 2:833–836

ovarian (See Ovarian cancer) pancreatic (See Pancreatic cancer) prostate (See Prostate cancer) skin, 1:189, 419

stomach, 2:1097–1103 , 1098–1099 ,

1101

susceptibility testing, 1:478–479 thalidomide therapy, 2:1128 Wiskott-Aldrich syndrome,

2:1204–1205 Candidate genes, 2:1035–1037 Captopril, 1:307

Carbohydrate antigen 125, 1:192, 2:868

Carbohydrate deficient transferrin test,

1:52

Carboxylase deficiency acidemias, 2:845 pyruvate, 2:970–972

Carcinogens, 1:192

Carcinomas

adrenocortical, 1:665–666 Bloom syndrome and, 1:163–165 classification, 1:189

familial medullary thyroid, 2:763, 765–766

hepatocellular, 1:62–63, 677–678 medullary thyroid, 2:764–765 renal cell, 2:1175–1177

Cardiac care, muscular dystrophy, 2:775

Cardiac muscle

Duchenne muscular dystrophy, 1:361–362

Emery-Dreifuss muscular dystrophy, 1:386

Cardiofaciocutaneous syndrome,

1:199–201, 2: 821 Cardiomyopathic lentiginosis, 2:768 Carney syndrome, 1:30

Carnitine palmitoyltransferase deficiency (CPT), 1:201–204

L-Carnitine, 2:720, 740, 845

Carpenter syndrome, 1:205–208 , 207, 1:287

Carrier testing

Bloom syndrome, 1:165 Canavan disease, 1:186–187

Charcot-Marie-Tooth disease, 1:221 congenital adrenal hyperplasia,

1:264

cystic fibrosis, 1:295–296 cystinosis, 1:302–303 Emery-Dreifuss muscular

dystrophy, 1:386 genetic testing, 1:477–478

Miller-Dieker syndrome, 2:746 Smith-Lemli-Opitz syndrome,

2:1067

Wiskott-Aldrich syndrome, 2:1203

Cartilage

chondrosarcoma, 1:227–229 osteoarthritis, 2:853–856

Cat-eye syndrome coloboma, 1:256

Rieger syndrome, 2:1002–1003 Cataplexy, 2:792–793

Cataracts

Marfan syndrome, 2:710, 711 Rothmund-Thomson syndrome,

2:1010–1011

Werner syndrome, 2:1194 Catatonic schizophrenia, 2:1023

Catechol-O-methyltransferase, 2:886–887

Cathepsin C gene, 1:501–503 Cationic trypsinogen gene, 1:192

1316

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

Causality theory, schizophrenia, 2:1024 CBFA1 gene, 1:243–245

CCD (Central core disease), 1:211–212

CCD (Cleidocranial dysplasia),

1:243–245 , 244

CDKN2A gene

familial atypical multiple mole melanoma syndrome, 1:192

pancreatic cancer, 2:877–878 Celera, 1:566–567

Celiac disease, 1:208–211

Cell adhesion molecules, 2:1214–1218

Cell division, chromosome number and structure, 1:232–233

Cell-mediated immune system, hereditary angioneurotic edema, 1:527–529

Cellular immunity, 2:697

Centers for Disease Control, 1:118 Central core disease (CCD), 1:211–212

Central nervous system (CNS) adrenoleukodystrophy, 1:37 alcoholism and, 1:51–52 CHARGE syndrome, 1:225–226 hypomyelination, leukodystrophy,

1:662–663

Schwartz-Jampel syndrome, 2:1030 Tangier disease, 2:1111

Von Hippel-Lindau syndrome, 2:1173–1177

CEP (Congenital erythropoietic porphyria), 2:940–941, 943–944

Cephalopagus, conjoined twins, 1:273 Cerebellar ataxia, 1:124

Cerebral angiography, 2:749

Cerebral palsy, 1:212–218 , 217 characteristics, 1:213 MCAD, 2:718

pyruvate dehydrogenase complex deficiency, 2:974

spastic, 2:1074–1075

Cerebrooculofacioskeletal syndrome, 1:105–106

Cerebrospinal fluid (CSF) Arnold-Chiari malformation, 1:103 Dandy-Walker malformation,

1:309–310 hydrocephalus, 1:575–578 X-linked hydrocephaly,

2:1214–1218

Cerebrotendinous xanthomatosis, 1:662–664

Cervical dysplasia, 1:365 Cervical dystonia, 1:370 Cervicitis, 1:94, 96 CFTR gene, 1:295

CGG sequence, 1:431

Chaperonin, McKusick-Kaufmann syndrome, 2:722–724

Charcot-Marie-Tooth disease,

1:219–222

Charge Syndrome Foundation, 1:226

CHARGE syndrome, 1:222–225, 1:256–257

Chediak-Higashi syndrome, 1:226–227 albinism with, 1:45

Griscelli syndrome, 1:499–500

Chemotherapy

breast cancer, 1:176–177 cancer management, 1:196 liver cancer, 1:680 ovarian cancer, 2:868

pancreatic cancer, 2:879–880 prostate cancer, 2:960 stomach cancer, 2:1102

Chest pain, familial Mediterranean fever, 1:416

Chest physiotherapy Kennedy disease, 1:636

spinal muscular atrophy, 2:1083 Chiari II anomaly, 2:1079–1080

Childhood acid maltase deficiency, 1:23–25

Childhood adrenoleukodystrophy, 1:36 Childhood Autism Rating Scale, 2:909

Childhood cancer

congenital syndrome/malformation, 1:196, 196

retinoblastoma, 2:991–994

Childhood disintegrative disorder, 2:907

Childhood hypophosphatasia, 1:589

Children, adopted. See Adopted children studies

Choanal atresia, 1:222–224

Cholestasis with periphereal pulmonary stenosis, 1:41–43

Cholesterol metabolism holoprosencephaly, 1:557 Smith-Lemli-Opitz syndrome,

2:1065–1068

Tangier disease, 2:1109–1112

Cholesteryl ester storage disease, 2:1208–1210

Chondrocyte, achondrogenesis, 1:15 Chondrodystrophy. See Achondroplasia

Chondroectodermal dysplasia,

1:380–383, 2: 1044 Chondroitin, osteoarthritis, 2:856

Chondrosarcoma, 1:227–229, 1: 542 Chorion, amniocentesis, 1:75

Chorionic villus sampling (CVS) achondroplasia, 1:18–19 adrenoleukodystrophy, 1:38 Alagille syndrome, 1:42–43 vs. amniocentesis, 1:77

Beckwith-Wiedemann syndrome, 1:147–148

campomelic dysplasia, 1:184–185 Canavan disease, 1:188 chromosomal abnormalities, 1:238 cri du chat syndrome, 1:291 Crouzon syndrome, 1:293 cystinosis, 1:303

diastrophic dysplasia, 1:339 Down syndrome, 1:351–352 Duchenne muscular dystrophy,

1:363 Emery-Dreifuss muscular

dystrophy, 1:386 Fabry disease, 1:402 Friedreich ataxia, 1:440

FSH muscular dystrophy, 1:446 genetic counseling, 1:469–470 GM1-gangliosidosis, 1:490 hypochondroplasia, 1:586–587 hypophosphatasia, 1:590

Leigh syndrome, 1:657 osteogenesis imperfecta, 2:858–859 preparation and risk, 1:480–481 sickle cell disease, 2:1052 Sjögren-Larsson syndrome, 2:1063 Smith-Lemli-Opitz syndrome,

2:1067 trisomy 18, 2:1148

Choroid plexus papillomas, 1:40–41,

41

Choroidal coloboma, 1:255–256 Choroideremia, 1:229–231

Chromosomal abnormalities,

1:232–238 , 233, 236–237 aneuploidy, 1:233–235 cell division, 1:232–233

deletions, 1:236–237, 312–315 human chromosome number and

structure, 1:232 maternal age and prenatal

diagnosis, 1:237–238 polyploidy, 1:235–236 structural alterations, 1:236–237

Chromosome analysis

bone marrow preparation, 1:480 cancer diagnosis and prognosis,

1:480

genetic testing, 1:476–477 preand postnatal testing,

1:479–480

trisomy 18, 2:1148–1149 Chromosome breakage test, 1:419–420

Chromosome deletion Angelman syndrome, 1:91 gene mutation, 1:458–459

Chromosomes, 1:239–240 , 240 cancer and, 1:189

DNA structure, 1:342–344 gene pool, 1:460

gene therapy, 1:462 genes and, 1:455–456

genetic mapping, 1:457–458 genetic testing, 1:475 homologous, 1:163, 456

Index

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

1317

Index

Chromosomes (cont’d) inheritance, 1:606 karyotype, 1:633–634

sex (See Sex chromosomes) X (See X chromosome)

Y (See Y Chromosome) Chronic atrophic gastritis, 1:192 Chronic lung disease, 1:62 Chronodystrophy, 1:584–587

Chudley-Lowry syndrome, 2:988, 1106 Chylomicron, 1:6

Ciliary motility disorders, 1:630–632

Circulatory system scleroderma, 2:1033–1034 triose phosphate isomerase

deficiency, 2:1142–1143

Cirrhosis, 1:678 defined, 1:192

Niemann-Pick disease, 2:815 CK. See Creatine kinase

Classical non-salt-losing congenital adrenal hyperplasia-21, 1:262–263

Classical salt-losing congenital adrenal hyperplasia-21, 1:262–263

Cleft lip and palate, 1:240–242 , 241 Aase syndrome, 1:4

Apert syndrome, 1:97 branchiootorenal syndrome,

1:171–172

deletion 22q11 syndrome, 1:312–314

ectodermal dysplasia, 1:374–375 Fryns syndrome, 1:443–444 Neu-Laxova syndrome, 2:798 Pierre-Robin sequence, 2:924–925 Van der Woude syndrome,

2:1167–1169

Cleidocranial dysplasia (CCD),

1:243–245 , 244

Climate, asthma and, 1:121

Clinical breast examination, 1:173, 177, 192

Clinodactyly, 2:1014–1015 CLN3 gene, 1:140

Clonidine, Asperger syndrome, 1:111

Clotting disorders

Factor V Leiden thrombophilia, 1:403–405

hemophilia, 1:523–527 hereditary angioneurotic edema,

1:527–529 paroxysmal nocturnal

hemoglobinuria, 2:888–890 screening test, 1:405

Sebastian syndrome, 2:1037–1038 TAR syndrome, 2:1112–1114 thrombasthenia of Glanzmann and

Naegli, 2:1133–1136 von Willebrand disease,

2:1177–1181

Clouston syndrome, 1:369, 373

CLS (Coffin-Lowry syndrome),

1:249–250 , 250, 1:252

Clubfoot, 1:245–246 , 246 abetalipoproteinemia, 1:6 amniocentesis, 1:78

arthrogryposis multiplex congenita, 1:105–106

Beals syndrome, 1:141–143 campomelic dysplasia, 1:185 Crane-Heise syndrome, 1:286 diastrophic dysplasia, 1:338–339 distal arthrogryposis syndrome,

1:340

Larsen syndrome, 1:648 Meckel-Gruber syndrome, 2:728 Wolf-Hirschhorn syndrome,

2:1205–1207 CMD1 and 2, 1:183–185

CMT (Charcot-Marie-Tooth disease),

1:219–222

CMT2 disease, 1:220 CMT3 disease, 1:220 CMT4 disease, 1:220 CMT1B disease, 1:219–220 CMTX disease, 1:220

CNS. See Central nervous system

Coarctation, bicuspid aortic valve, 1:154–156

Cobb angle, 2:1036–1037

Cobblestone dysplasia, 1:674–676 Cochin Jewish disorder, 1:501–503

Cochlear implants, 1:620 Cockayne syndrome, 1:247–249 Coffin, Grange S., 1:251

Coffin-Lowry syndrome (CLS),

1:249–250 , 250, 1:252 Coffin-Siris syndrome, 1:250–252

Cognitive function, phenylketonuria, 2:919–923

COH1 gene, 1:253 Cohen, M. M., 1:252 Cohen, Michael, 2:961

Cohen syndrome, 1:252–255

COL2A1 gene

Marshall syndrome, 2:713 osteoarthritis, 2:855–856 Stickler syndrome, 2:1094

COL3A1 gene, 1:378 COL9A1 gene, 2:855–856

COL11A1 gene

Marshall syndrome, 2:713 Stickler syndrome, 2:1094–1095

COL11A2 gene

Stickler syndrome, 2:1094 Weissenbacher-Zweymuller syndrome, 2:1191–1192

Colchicine, 1:416–417

COLIA1 gene

osteogenesis imperfecta, 2:856–859 osteoporosis, 2:860–863

COLIA2 gene, 2:856–859

Collaborative Study on the Genetics of Alcoholism, 1:48–49

Collagen alkaptonuria, 1:57

osteoarthritis, 2:854–856 osteogenesis imperfecta, 2:856–859 scleroderma, 2:1032–1034

Collagen gene

Marshall syndrome, 2:713 scoliosis, 2:1035–1036

Collins, E. Treacher, 2:1140

Coloboma, 1:255–257 , 256 Aicardi syndrome, 1:40

CHARGE syndrome, 1:222–223, 225

Cohen syndrome, 1:254 Goldenhar syndrome, 1:493 Goltz syndrome, 1:495 microphthalmia with linear skin

defects, 2:742 Patau syndrome, 2:892

Colon cancer, 1:189

Colonoscopy

familial adenomatous polyposis, 1:411

hereditary colorectal cancer, 1:533

Color blindness, 1:230, 1:257–259 ,

258–259

Colorectal cancer

familial adenomatous polyposis, 1:408–409

hereditary form, 1:530–533

Communicable diseases. See Infectious diseases

Communicating hydrocephalus, 1:575–577

Complementary therapy, cancer management, 1:198

Complete androgen insensitivity, 1:83–86

Compound heterozygote, alkaptonuria,

1:57

Computed tomography scan acrocallosal syndrome diagnosis,

1:27–28 alkaptonuria, 1:59

cancer screening, 1:193–194 chondrosarcoma, 1:228–229 encephalocele, 1:388

liver cancer, 1:679 Moyamoya, 2:749 pancreatic cancer, 2:879

Conductive hearing loss, 1:536 otopalatodigital syndrome,

2:864–865

Rieger syndrome, 2:1002 Cone-rod dystrophy (CRD), 1:260–261

1318

GALE ENCYCLOPEDIA OF GENETIC DISORDERS