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

Retinal dysplasia, 2:892

Retinal molecule, rhodopsin, 2:1000 Retinal photograph, glaucoma, 1:487

Retinal pigmented epithelium, choroideremia, 1:229–231

Retinitis pigmentosa, 2:989–991 abetalipoproteinemia, 1:6 Bardet-Biedl syndrome, 1:138 choroideremia, 1:230

color blindness, 1:258 cone-rod dystrophy, 1:260–261 infantile refsum disease, 1:605 Leber congenital amaurosis,

1:649–652 Refsum disease, 2:984

rhodopsin mutations, 2:1000 Sjögren-Larsson syndrome, 2:1062 Usher syndrome, 2:1160–1165

Retinoblastoma, 2:991–994 , 992–994 Retinopathy, sickle cell disease, 2:1052

Retraction syndrome, Duane,

1:353–357 , 356

Retroviruses, gene therapy, 1:464 Rett, Andreas, 2:995

Rett syndrome, 2:995–996 autism, 1:131 characteristics, 2:907–910

Reversible dementia, 1:320 Reynolds, J. F., 1:199

Rh protein, hydrops fetalis, 1:579–581 Rhabdomyolysis, 1:203

Rheumatoid arthritis ankylosing spondylitis, 1:94 Raynaud disease, 2:979

Rheumatoid factor, ankylosing spondylitis, 1:94

Rhizomelic chondrodysplasia punctata,

2:997–999

Rhizomelic shortening, 1:18, 20–21

Rho/Rac guanine exchange factor, Aarskog syndrome, 1:1–2

Rhodopsin, 2:999–1000

Ribonucleic acid (RNA). See RNA (Ribonucleic acid)

Ribosomal RNA (rRNA), 1:456, 2:1004–1005

Rich, Alexander, 1:344 Rickets, 1:587

RIEG1 and 2 genes, 2:1001–1003 Rieger, Herwigh, 2:1001

Rieger syndrome, 2:1001–1003 Riley-Day syndrome, 1:412–413

Rilutek, amyotrophic lateral sclerosis,

1:82

Risedronate, osteoporosis, 2:862–863

Ristocetin-induced platelet aggregation, 2:1180–1181

RNA (Ribonucleic acid), 2:1004,

1004–1005

DNA structure and, 1:344 gene structure and, 1:455

Roberts SC phocomelia, 1:70, 72,

2:1005–1007

Robinow, Meinhard, 2:1007

Robinow syndrome, 2:1007–1009 ,

1008

Rod cells, rhodopsin, 2:999–1000

Ross procedure, congenital heart defects, 1:269

Rothmund-Thomson syndrome (RTS),

2:1009–1011

RSK2 gene, 1:249

RSS (Russell-Silver syndrome),

2:1014–1016

RSTS (Rubinstein-Taybi syndrome),

2:1012–1014 , 1015

RTS (Rothmund-Thomson syndrome),

2:1009–1011

Rubinstein, Jack, 2:1012

Rubinstein-Taybi syndrome (RSTS),

2:1012–1014 , 1015

Russell, A., 2:1014

Russell-Silver syndrome (RSS),

2:1014–1016

Ryanodine receptor protein, malignant hyperthermia, 2:701–702

I S

12S gene, 1:568 Sacroiliac joint, 1:94 Sacroiliitis, 1:94, 96 Saethre, Haakon, 2:1019

Saethre-Chotzen syndrome,

2:1019–1021

arthrogryposis multiplex congenita, 1:105–106

Rubinstein-Taybi syndrome, 2:1013–1014

Sagittal craniosynostosis, 1:287–288

St. John’s wort, depression management, 1:327

Saldino, R. M., 2:1044

Salonen-Herva-Norio syndrome,

1:578–579

Sanfilippo syndrome, 2:755–756 Sanger Centre, 1:565–566 Sarcoidosis, 2:794

Sarcoma

angiosarcoma, 1:39, 41 chondrosarcoma, 1:227–229, 1: 542 classification, 1:189

Li-Fraumeni syndrome, 1:665–666 Savant skills, autism, 1:130

SBG (Simpson-Golabi-Behmel

syndrome), 2:1056–1059

SBMA (Spinobulbar muscular atrophy), 1:634–636, 2:1081

SCA (Spinocerebellar ataxia),

2:1084–1087

Scaphocephaly

Russell-Silver syndrome, 2:1015 sagittal craniosynostosis, 1:287

Scapuloiliopereoneal atrophy with cardiopathy. See Emery-Dreifuss muscular dystrophy

Schaefer, G. Bradley, 1:536

Scheie syndrome, 2:754

Schilder’s disease, 1:185

Schinzel acrocallosal syndrome,

1:26–28 , 28

Schinzel-Giedion syndrome, 2:1022

Schizophrenia, 1:48, 2:908,

2:1023–1027

Schmid type dysplasia, 2:733–734

Schwachman Diamond metaphyseal dysplasia, 2:733–734

Schwalbe ring, posterior embryotoxon, 1:42–43

Schwartz-Jampel syndrome (SJS),

2:1028–1031

Schwatz, V., 1:447

SCID (Severe combined immunodeficiency), 2:1040–1043

Scleroderma, 2:1031–1034 , 1032 hair loss, 1:502

progeria syndrome, 2:953 Raynaud disease, 2:979

SCN5A gene

Brugada syndrome, 1:267–268 long-QT syndrome, 1:683

Scoliometer, 2:1036

Scoliosis, 2:1034–1037 , 1035 arthrogryposis multiplex congenita,

1:105

Beals syndrome, 1:142–143 central core disease, 1:212 cerebral palsy, 1:215–216 cleidocranial dysplasia, 1:244 deletion 22q11 syndrome, 1:314 diastrophic dysplasia, 1:337 Duchenne muscular dystrophy,

1:361

Ehlers-Danlos syndrome, 1:378 Emery-Dreifuss muscular

dystrophy, 1:386 Engelmann disease, 1:389 Friedreich ataxia, 1:439 Fryns syndrome, 1:443 Goldenhar syndrome, 1:493

Holt-Oram syndrome, 1:560–561 homocystinuria, 1:563 Klippel-Feil sequence, 1:640

Index

Index

Scoliosis (cont’d)

Marfan syndrome, 2:708, 711 metaphyseal dysplasia, 2:733 Noonan syndrome, 2:820–821 Schwartz-Jampel syndrome,

2:1028–1031

Sebastian syndrome, 2:1037–1038 Seckel, Helmut G. P., 2:1039 Seckel syndrome, 2:1030,

2:1039–1040

Second-degree relative, Alagille syndrome, 1:42

Secondary dystonia, 1:370 SED. See Spondyloepiphyseal

dysplasia

Seemanova syndrome, 2:871–872 Seizures

Aicardi syndrome, 1:40 Angelman syndrome, 1:92 epileptic, 1:394–396 lissencephaly, 1:675–676 long-QT syndrome, 1:684–686 neurofibromatosis, 2:812 Smith-Fineman-Myers syndrome,

2:1064–1065 Sturge-Weber syndrome,

2:1104–1105

tuberous sclerosis complex, 2:1152–1153

Selective serotonin reuptake inhibitors (SSRIs)

Asperger syndrome, 1:111 depression management, 1:327 hair loss treatment, 1:508

Self-injurious behavior, Tourette syndrome, 2:1138

Senile osteoporosis, 2:860–863 Sensorineural hearing loss

Pendred syndrome, 2:902–906 Usher syndrome, 2:1160–1165

Septal defects, 1:267, 268 Serotonin dopamine antagonists,

schizophrenia, 2:1027 Serum amyloid A, familial

Mediterranean fever, 1:416 Serum CK test, acid maltase

deficiency, 1:25–26

Serum glutamine oxaloacetic transaminase

alcoholism diagnosis, 1:52 alpha-1 antitrypsin, 1:63

Serum glutamine pyruvic transaminase,

1:63

Severe achondroplasia with developmental delay and acanthosis nigricans dysplasia, 1:429

Severe asthma, 1:120

Severe combined immunodeficiency (SCID), 2:1040–1043 , 1042

Sex chromosomes aneuploidy, 1:234–325

Crane-Heise syndrome, 1:286 genetic disorders, 1:472–473 genotype and phenotype,

1:482–483

Klinefelter syndrome, 1:637–638 structure and number, 1:239

Sex determination, 2:1228

Sex-linked inheritance carrier testing, 1:477–478

Duchenne muscular dystrophy, 1:360

Menkes syndrome, 2:729–730 X-linked dominant, 1:607–609 X-linked recessive, 1:609 X-linked semi-dominant,

1:609–610

Sexual behavior, cancer demographics, 1:191

Sexual development, sex determining region Y, 2:1092–1093

SFMS (Smith-Fineman-Myers syndrome), 2:1064–1065

Shaw, S., 2:1112

Shh pathway, holoprosencephaly, 1:557

Short rib polydactyly syndromes (SRPS), 1:380, 382, 2:1044–1045,

1044–1046

SHOX gene, 1:658–660

Shprintzen-Goldberg craniosynostosis syndrome, 2:1046–1048

Shprintzen syndrome. See Deletion 22q11 syndrome

Shunt procedures, congenital heart defects, 1:269

Sialic acid, neuraminidase deficiency, 2:803

Sialidase, neuraminidase deficiency, 2:803

Sialodosis I and II

vs. galactosialodosis, 2:809 neuraminidase deficiency,

2:802–806

Sibling pair studies, 2:762

Sickle cell disease, 2:1048–1055 ,

1049–1050 , 1054 amniocentesis, 1:75 color blindness, 1:258

nephrogenic diabetes insipidus, 2:794

Sickle cell trait, 2:1048

Sickledex test, sickle cell disease, 2:1052

Sideroblastic X-linked anemia,

1:86–89

Siewert syndrome, 1:630–632

Sigmoidoscopy

familial adenomatous polyposis, 1:411

hereditary colorectal cancer, 1:533

Signal transducers, proto-oncogenes, 2:834

Silver, H. K., 2:1014

Simpson-Golabi-Behmel (SGB) syndrome, 1:148, 2:1056–1059 , 1057

Single point mutation, 2:717 Sinuses, cystic fibrosis, 1:297 Sipple syndrome, 2:763–767 Sirenomelia, 2:1059, 1059–1061 Siris, Evelyn, 1:251

Sister chromatid exchange, Bloom syndrome, 1:163, 165

Situational drinkers, 1:48

Situs inversus, Kartagener syndrome, 1:630–632

Sjögren, Torsten, 2:1061

Sjögren-Larsson syndrome,

2:1061–1063

SJS (Schwartz-Jampel syndrome),

2:1028–1031

Skeletal dysplasia, 1:366–368, 1:367 Ellis-van Creveld syndrome,

1:382–383 hypochondroplasia, 1:584–587 Larsen syndrome, 1:646–649 Schwartz-Jampel syndrome,

2:1028–1031

Skin cancer

Fanconi anemia, 1:419 hereditary component, 1:189

Skin conditions

blue rubber bleb nevus syndrome, 1:166–167

Donohue syndrome, 1:346–347 Dubowitz syndrome, 1:359 ectodermal dysplasia, 1:374–375 familial Mediterranean fever, 1:416 Haim-Munk syndrome, 1:501–503 Harlequin fetus, 1:513–515, 514 ichthyosis, 1:597–599 McCune-Albright syndrome, 2:721 microphthalmia with linear skin

defects, 2:741–743 Muir-Torre syndrome, 2:758–760 multiple lentigenes syndrome,

2:768–769 neurofibromatosis, 2:811–813,

812

Peutz-Jeghers syndrome, 2:910–913 progeria syndrome, 2:953

Proteus syndrome, 2:961–963 pseudoxanthoma elasticum,

2:965–967 Rothmund-Thomson syndrome,

2:1009–1011 scleroderma, 2:1032–1034 Sjögren-Larsson syndrome,

2:1061–1063

tuberous sclerosis complex, 2:1150–1151

Turner syndrome, 2:1156

Waardenburg syndrome, 2:1183–1187

Werner syndrome, 2:1194 xeroderma pigmentosum,

2:1212–1213

Skin fibroblast testing, cystinosis, 1:303

SLC3A1 gene, 1:305 SLC6A4 gene, 2:881–884 SLC7A9 gene, 1:305 Sleep apnea

achondroplasia, 1:19–20 Apert syndrome, 1:97 hypochondroplasia, 1:586–587 Marfan syndrome, 2:710

Slone Survey, accutane embryopathy demographics, 1:11

SLOS (Smith-Lemli-Opitz syndrome),

2:1065–1068

Sly disease beta-glucuronidase, 2:756 hydrops fetalis, 1:580–581

SMA (Spinal muscular atrophy),

2:1037, 2:1081–1084

Smith, Ann M., 2:1068

Smith, David W., 2:1065 Smith-Fineman-Myers syndrome

(SFMS), 2:1064–1065

Smith-Lemli-Opitz syndrome (SLOS),

2:1065–1068

Smith-Magenis syndrome, 1:236,

2:1068–1071

Smoking

alpha-1 antitrypsin, 1:62 asthma and, 1:121

cancer demographics, 1:190 cleft lip and palate, 1:241 hyperlipoproteinemia, 1:584 Marfan syndrome, 2:711 osteoporosis, 2:862

Sneezing, 1:21–23 Social drinkers, 1:49 SOD1 gene, 1:80–82

Sodium valproate, bipolar disorder type II, 1:161–162

Somatomedin C. See Insulin-like growth factor-1

Somatostatin, acromegaly, 1:30 Soni, T., 1:448

Sotos syndrome, 2:1071–1074 , 1073 vs. Beckwith-Wiedemann

syndrome, 1:148

vs. Cohen syndrome, 1:255 Marshall-Smith syndrome, 2:716

SOX9 gene

campomelic dysplasia, 1:183 sexual development, 2:1093

SOX10 gene

Hirschsprung’s disease, 1:553 Waardenburg syndrome, 2:1184

Spahr type metaphyseal chondrodysplasia, 2:735

Spastic cerebral palsy, 2:1074–1075 Spastic gait genes, 1:547–549

Spectrin, hereditary spherocytosis, 2:1076

Sperm injections, 1:632, 2:1229 Spherocytosis, hereditary, 2:1075–1078 Sphygmomanometers, 1:398

Spielmeyer-Vogt-Sjögren-Batten disease, 1:139–141 , 141

Spina bifida, 1:387, 2:1078–1081 ,

1080

anencephaly and, 1:90 Arnold-Chiari malformation, 1:103 characteristics, 2:800–801, 2:801 diastrophic dysplasia, 1:337 management, 2:802

multifactorial inheritance, 2:761–762

Waardenburg syndrome, 2:1185–1186

Spina bifida occulta, 2:1079 Adams-Oliver syndrome, 1:34 Alagille syndrome, 1:42–43

Spina rachischisis, 2:1078–1079 Spinal fusion, scoliosis, 2:1037

Spinal muscular atrophy (SMA),

2:1037, 2:1081–1084

Spinobulbar muscular atrophy (SBMA), 1:634–636, 2:1081

Spinocerebellar ataxia (SCA),

2:1084–1087

See also Azorean disease

Spleen

asplenia, 1:113

sickle cell disease, 2:1050 Tangier disease, 2:1111

Splenic sequestration, sickle cell disease, 2:1050

Splenomegaly, beta thalassemia, 1:151–152

Spondyloarthritis, 1:94

Spondyloepiphyseal dysplasia,

2:1088–1091, 2: 1094

Spondyloepiphyseal dysplasia tarda, 2:1088–1091

Spondylolisthesis, 2:708, 711

Spondylospinal thoracic dysostosis, 1:106

Spongy degeneration of the brain,

1:185–188

Sporadic inheritance

central core disease, 1:211–212 Emery-Dreifuss muscular

dystrophy, 1:384 pseudoxanthoma elasticum, 2:966

SRPS. See Short rib polydactyly syndromes

SRY (Sex determining region Y),

2:1091–1093 , 1093, 2:1218–1221 STA gene, 1:384

STA-MCA anastomosis, 2:750 Stallings, Patricia, 2:737

Statins, hyperlipoproteinemia, 1:584 Stein, I. F., 2:935

Stein-Leventhal syndrome, 2:935–938 ,

937

Steinert’s disease. See Myotonic dystrophy

Stem cell transplantation, 1:197–198

Stenosis

congenital heart disease, 1:266–267 pyloric (See Pyloric stenosis)

S.T.E.P.S program, 2:1129

Stickler syndrome, 2:1094–1097, 2:1191

Still, George, 1:127 Stillbirth, 1:13

Stilling-Turk-Duane syndrome,

1:353–357 , 356

STK11 gene, 2:911

Stomach cancer, 1:193, 2:1097–1103 ,

1098–1099 , 1101

Strabismus

albinism, 1:44–47

Duane retraction syndrome, 1:353–354

retinoblastoma, 2:992–993 Williams syndrome, 2:1197–1198

Streissguth, Ann, 1:424

Striae, Marfan syndrome, 2:710 Strickler syndrome, 2:713 Stroke, 2:1051

Stromal dystrophies, 1:276

STS content mapping, Human Genome Project, 1:566

Sturge-Weber syndrome (SWS), 1:256,

2:1103–1105 , 1104

Sturtevant, A. H., 1:342 Stuve-Wiedemann syndrome, 2:1030 Subaortic stenosis, 1:266–267

Substance Abuse Subtle Screening Inventory, 1:52

Substantia nigra, 2:884–885

Sudden infant death syndrome Jervell and Lange-Nielsen syndrome, 1:619

long-QT syndrome, 1:683–684 Suicide, bipolar disorder type II, 1:161

L-Sulfoiduronate, Hunter syndrome, 1:567–568

Summitt syndrome, 1:205 Super-male syndrome, 2:1221–1223

Superconducting Quantum Interference Device, 1:152

Index

Index

Superficial temporal artery-middle cerebral arteryanastomosis, 2:750

Support Organization for Trisomy 18, 13, and Related Disorders (S.O.F.T.), 2:1149

Supravalvar aortic stenosis, 2:1197

Surgery

Aarskog syndrome, 1:2–3 cancer management, 1:196 congenital heart defects, 1:269 eye, 2:783–784

laser, 2:993

liver cancer, 1:680 long-QT syndrome, 1:686 Marfan syndrome, 2:711 Moyamoya, 2:750 muscular dystrophy, 2:775 ovarian cancer, 2:868 pancreatic cancer, 2:879 Parkinson disease, 2:887 prostate cancer, 2:960 sickle cell disease, 2:1055 stomach cancer, 2:1102

Survival of motor neuron protein, 2:1083

Sutherland Haan X-linked mental retardation syndrome, 2:988,

2:1105–1107 , 1106

Sweat glands, cystic fibrosis, 1:298

Syncope, long-QT syndrome, 1:684–685

Syndactyly

acrocallosal syndrome, 1:27 Apert syndrome, 1:97

arthrogryposis multiplex congenita, 1:106

Fraser syndrome, 1:435–436 Nijmegen breakage syndrome,

2:817–818 oculo-digito-esophago-duodenal

syndrome, 2:825–826

Syndromatic hepatic ductular hypoplasia, 1:41–43

Syndromic hearing loss, 1:536 Syringomyelia, 1:101

System for Thalidomide Education and Prescribing Safety program, 2:1129

Systemic elastorrhexis, 2:965–968

I T

1278T gene, 1:563, 565 Talipes calacaneus, 1:245

Talipes equinovarus

arthrogryposis multiplex congenita, 1:105

clubfoot, 1:245

Tamoxifen, breast cancer management, 1:177

Tandem mass spectrometry, 2:719 Tangier disease, 2:1109–1112

TAR syndrome, 2:1112, 2:1112–1114 ,

2:1114

Tay-Sachs disease, 2:1115–1116 amniocentesis, 1:75–76 carrier testing, 1:478

vs. Niemann-Pick disease, 2:816 See also GM1-gangliosidosis

Taybi, Hooshang, 2:1012 TBX5 gene, 1:559–561 T14484C mutation, 1:653–655 TCA cycle

methylmalonic acidemia, 2:735–737

pyruvate dehydrogenase complex deficiency, 2:972–975

TCS (Treacher Collins syndrome),

2:1140–1142

Tedesco, T. A., 1:448 Telescoping, alcoholism, 1:49 Telogen effluvium, 1:504–505

Tenting (Membranes), amniocentesis,

1:78

Teratogen, 2:1116–1119 accutane as, 1:11 alcohol, 1:423–424 amelia, 1:71 cerebral palsy, 1:214

holoprosencephaly, 1:557–558 list, 2:1118

phenylketonuria, 2:919–923 thalidomide, 2:1127

Testosterone

congenital adrenal hyperplasia, 1:262, 265

male pattern hair loss, 1:504 Tetralogy of Fallot

characteristics, 1:267

Cornelia de Lange syndrome, 1:280 frontonasal dysplasia, 1:441–442

Tetraploidy, 1:236

TGN (Thrombasthenia of Glanzmann and Naegli), 2:1133–1136

Thalassemia, 2:1119–1126 , 1123 classification, 2:1119

Thalidomide amelia, 1:71

embryopathy, 2:1127–1130 teratogenicity, 2:1117 therapeutic applications,

2:1127–1128

Thanatophoric dysplasia, 1:366, 1:368,

2:1130–1133

fibroblast growth factor receptor mutations, 1:429

short-rib polydactyly syndromes, 2:1044–1046

Thermotherapy, retinoblastoma, 2:994 Thiamine triphosphate, Leigh

syndrome, 1:657

Thomson, Matthew S., 2:1010 Thoracopagus, conjoined twins, 1:273

Thrombasthenia of Glanzmann and Naegli (TGN), 2:1133–1136

Thrombocytopenia-absent radius syndrome, 2:1112, 2:1112–1114 ,

2:1114

Thromboembolism, 1:405 Thrombosis, 1:405

Thymectomy, myasthenia gravis, 2:778–779

Thymus gland, accutane embryopathy and, 1:13

Thyroid gland

congenital hypothyroid syndrome, 1:270–272

Pendred syndrome, 2:902–906

Thyroid releasing hormone, Pendred syndrome, 2:902–906

Thyroid stimulating hormone, congenital hypothyroid syndrome, 1:270–272

Thyrotropin-releasing hormone, congenital hypothyroid syndrome, 1:270–272

Thyroxine (T4)

congenital hypothyroid syndrome, 1:270

Pendred syndrome, 2:902–906 Tiopronin, cystinuria, 1:307

Tissue non-specific alkaline phosphatase, 1:587–590

Tissue transplantation, 2:697, 699 Titmus II Vision Tester, 1:259 Tonsils, Tangier disease, 2:1111 TORCH test, 1:214

Torticollis, 1:640

Total anomalous pulmonary venous return, 1:267

Total craniosynostosis, 1:288 Tourette, Gilles de la, 2:1136

Tourette syndrome, 1:110,

2:1136–1140, 2: 1150

Toxoplasmosis, rubella, cytomegalovirus, and herpes test, 1:214

TPI (Triose phosphate isomerase deficiency), 2:1142–1144

Tracheoesophageal fistula Down syndrome, 1:349, 352

VATER association, 2:1169–1172

Tracheostomy, Treacher Collins syndrome, 2:1141

Traction alopecia, 1:504

Transcription factors, proto-oncogenes, 2:834

Transfer RNA (tRNA), 1:456, 2:1004–1005

Transforming growth factor-beta 1 gene, 1:390

Transgenic experiment, alcoholism, 1:49–50

Transglutaminase-1 gene, 1:598–599

Translocation

chromosome structural alteration, 1:236

gene mutation, 1:458–459 Prader-Willi syndrome, 2:946

Transplantation

bone marrow (See Bone marrow transplantation)

liver, 1:680, 2:849–850 lung, 1:300–301

organ, 1:304, 2:697, 699 peripheral stem cell, 1:197–198 tissue, 2:697, 699

Transposition of the great arteries asplenia, 1:112 characteristics, 1:267

Transrectal ultrasound defined, 1:195 prostate cancer, 2:959

Transvaginal ultrasound, 1:195

Treacher Collins syndrome (TCS),

2:1140–1142

Triamcinolone acetonide, hair loss treatment, 1:508

Tricho-dento-osseous syndrome, 1:373–374

Tricho-rhino-phalangeal syndrome II,

1:236, 1:645–646

Trichothiodystrophy, 2:1211 Trichotillomania, 1:504, 506–507 Tricuspid atresia, 1:267

Tricyclic antidepressants Asperger syndrome, 1:111 depression management, 1:327 hair loss treatment, 1:508 panic disorder, 2:883

Triglycerides, abetalipoproteinemia,

1:6

Triiodothyronine (T3)

congenital hypothyroid syndrome, 1:270

Pendred syndrome, 2:902–906

Trinucleotide sequence Azorean disease, 1:135

fragile X syndrome, 1:431–433 Friedreich ataxia, 1:439–440 myotonic dystrophy, 2:785–788 spinocerebellar ataxia, 2:1084

Triose phosphate isomerase deficiency,

2:1142–1144 , 1144

Triphalangeal thumbs, Aase syndrome, 1:3–4

Triple X syndrome, 1:235 Triploidy, 1:235–236

Tris-hydroxymethyl aminomethane, Leigh syndrome, 1:658

Trisomy 8, 1:71

Trisomy 13 aneuploidy, 1:234 coloboma, 1:256

holoprosencephaly, 1:558 Patau syndrome, 2:890–893

Trisomy 18, 2:1144–1149 aneuploidy, 1:234

arthrogryposis multiplex congenita, 1:105

chromsome abnormalities, 2:1144–1145

coloboma, 1:256

distal arthrogryposis syndrome, 1:341

genetic counseling, 1:469 Trisomy 21. See Down syndrome

Tritentine hydrochloride, Wilson disease, 2:1200–1201

tRNA Leu gene, 1:331 Truncus arteriosus, 1:112, 267 Trypsin gene, 1:543–546 TSC1 and 2 genes, 2:1150

Tuberous sclerosis complex (TSC),

1:131, 2:1150–1154 , 1152

Tumor development, BeckwithWiedemann syndrome, 1:147–149

Tumor necrosis factor (TNF), gene therapy, 1:466

Tumor suppressor genes

breast cancer genetics, 1:174 cancer genetics, 1:190 oncogene formation, 2:833–836

Tumors

brain, 1:39, 665–666 desmoid, 1:192, 410–411 Wilms, 1:147–149, 2:1058

Turcot syndrome, 1:408 Turner, M. F., 1:447

Turner-Kieser syndrome, 2:789–791 ,

791

Turner syndrome, 2:1154–1156 , 1156 Duchenne muscular dystrophy,

1:362

hydrops fetalis, 1:580–581

sex chromosome aneuploidy, 1:235

Twin reversed arterial perfusion sequence, 1:7–9

Twin studies

alcoholism genetics, 1:49 autism, 1:131

CHARGE syndrome, 1:223 multifactorial inheritance, 2:762 schizophrenia, 2:1024

Twin-twin transfusion syndrome, 1:7–9

Twins

acardia, 1:8–9

conjoined, 1:272–274, 1:274

zygote formation, 2:1228

TWIST gene

Carpenter syndrome, 1:206 craniosynostosis, 1:287, 289 Saethre-Chotzen syndrome, 1:106,

2:1019–1020

Type I diabetes. See Insulin-dependent diabetes mellitus

Type II collagen, chondrosarcoma, 1:228

Type II diabetes. See Non-insulin dependent diabetes mellitus

Tyrosinase-negative occulocutaneous albinism, 1:44–45

Tyrosine, alkaptonuria, 1:57

I U

UBE3A gene, 1:92–93 UGT 1A1 gene, 2:1077

Ultrasound screening

distal arthrogryposis syndrome, 1:341

Down syndrome, 1:351

Ellis-van Creveld syndrome, 1:382 encephalocele, 1:388

endoscopic, 2:1102 hemihypertrophy, 1:517 hydrolethalus syndrome, 1:578–579 Neu-Laxova syndrome, 2:799 oligohydramnios sequence,

2:829–830

Pfeiffer syndrome, 2:916–917 spina bifida, 2:1080–1081 transrectal, 1:195, 2:959 transvaginal, 1:195

trisomy 18, 2:1147–1148

Undifferentiated schizophrenia, 2:1023–1024

Unicoronal craniosynostosis, 1:288

Uniparental disomy Angelman syndrome, 1:92

Prader-Willi syndrome, 2:946 University of Washington, 1:565–566

Upper GI x ray, stomach cancer, 2:1101

Urea cycle disorders, 2:1159–1160 Apert syndrome, 1:100 ariginase deficiency, 1:101–102 ornithine transcarbamylase

deficiency, 2:848–849 Urethritis, 1:94, 96

Uridyl diphosphogalactose-4- epimerase, galactosemia III, 1:451

Urinalysis

congenital adrenal hyperplasia, 1:263

galactosialodosis, 2:810 Hurler syndrome, 1:573–574

Index

Index

Urinalysis (cont’d)

neuraminidase deficiency, 2:806 polycystic kidney disease,

2:933–934

Urine, alkaptonuria and color of, 1:55–60

Uroporphyrinogen decarboxylase, 2:941–942

Uroporphyrinogen III cosynthase gene, 2:941

Usher syndrome, 2:1160–1165 , 1164 characteristics, 2:1160–1162 variants, 2:1162–1163

Uveitis, 1:94

I V

Vaccines, diphtheria-pertussis-tetanus, 2:719–720

VACTERL association, 1:225,

2:1169–1172

Vagal nerve stimulation, epilepsy, 1:396

Valine, prion diseases, 2:950–952 Valium, cerebral palsy, 1:217 Valproic acid, bipolar disorder type II,

1:162

van der Burgt, Ineke, 2:819 Van der Knapp syndrome, 1:664

Van der Woude syndrome (VWS),

2:1167–1169

Variable expression Adams-Oliver syndrome, 1:34

branchiootorenal syndrome, 1:171 inheritance patterns, 1:611 Marfan syndrome, 2:707

Variegate porphyria, 2:940, 942 Vascular Ehlers-Danlos syndrome,

1:378

Vaso-occlusive events, sickle cell disease, 2:1050–1051

Vasopressin-2-receptor, nephrogenic diabetes insipidus, 2:794

VATER association, 1:225,

2:1169–1172

Velocardiofacial syndrome. See Deletion 22q11 syndrome Venous switch, congenital heart

defects, 1:269 Venter, J. Craig, 1:566

Ventricular septal defect Aase syndrome, 1:4 asplenia, 1:112 characteristics, 1:267

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

Verma-Naumoff type SRPS, 1:382–383, 2:1045

Very long chain fatty acids, adrenoleukodystrophy, 1:35–38

Vestibular areflexia, Usher syndrome type I, 2:1162

VHL (Von Hippel-Lindau syndrome),

2:1172–1177

Vineland Adaptive Behavior Scale, 1:424

Viral vectors, gene therapy, 1:464

Vision problems

Aicardi syndrome, 1:40 albinism disorders, 1:45 Bardet-Biedl syndrome, 1:138 coloboma, 1:255–257

color blindness, 1:257–259 corneal dystrophies, 1:275–277 Fraser syndrome, 1:434–436 glaucoma, 1:484–487 Hermansky-Pudlak syndrome,

1:550–551

Leber congenital amaurosis, 1:649–652

Lebers hereditary optic atrophy, 1:652–655

macular degeneration, 2:691–695 Marfan syndrome, 2:711 myopia, 2:780–784

pseudoxanthoma elasticum, 2:967 See also Blindness

Vitamin A, accutane embryopathy,

1:10

Vitamin B7, 2:720, 740, 845

Vitamin B6 therapy. See Pyridoxine therapy

Vitamin C

alkaptonuria management, 1:60 Ehlers-Danlos syndrome, 1:380

Vitamin D

hypophosphatemia, 1:591–593 osteoporosis, 2:862

Vitamin D receptor gene, 2:860–863

Vitamin deficiency, abetalipoproteinemia, 1:6

Vitamins

Batten disease management, 1:140–141

cystinosis, 1:304

See also specific vitamins Vocal tics, 2:1137

von Hippel, Eugen, 2:1173

Von Hippel-Lindau syndrome,

2:1172–1177 , 1174

Von Recklinghausen disease. See Neurofibromatosis

von Rothmund, August, 2:1010 von Willebrand, Erik, 2:1177

Von Willebrand disease (VWD),

2:1177–1181 , 1180 hemophilia, 1:525–526 Noonan syndrome, 2:821

vs. Osler-Weber-Rendu syndrome, 2:852

VSD. See Ventricular septal defect VWD. See Von Willebrand disease vWF factor, 2:1177–1181

VWS (Van der Woude syndrome),

2:1167–1169

I W

Waardenburg, Petrus, 2:1183 Waardenburg Consortium, 2:1185

Waardenburg syndrome (WS),

2:1183–1187 , 1186

Walker-Warburg syndrome,

2:1187–1188

WAS (Wiskott-Aldrich syndrome),

2:1202–1205 , 1204

Watchful waiting, prostate cancer, 2:960

Water deprivation test, nephrogenic diabetes insipidus, 2:796

Watson, James, 1:343–344, 467 Watson-Schwartz test, 2:942–943 Watson syndrome, 2:821 Weaver, David, 2:1189

Weaver syndrome, 2:715–716,

2:1189–1190

Weight management, 1:2

Weissenbacher-Zweymuller syndrome (WZS), 2:1190–1192

Werdnig-Hoffmann disease, 2:1082 Wermer syndrome, 2:763–767 Werner, C. W. Otto, 2:1193

Werner syndrome, 1:248,

2:1193–1195 , 1194

Weyers acrofacial dysostosis, 1:381–383

Whistling face syndrome, 1:437–438, 2:1030

White blood cell testing, cystinosis, 1:303

Whitehead Institute for Medical Research, 1:565–566

Wiedemann, Hans Rudolf, 2:961

Wiedemann-Beckwith syndrome. See Beckwith-Wiedemann syndrome

Wildervanck syndrome, 1:356 Wilkins, Maurice, 1:344 Williams, J. C. P., 2:1195 Williams syndrome, 2:1195–1198

Wilms tumor

Beckwith-Wiedemann syndrome, 1:147–149

Simpson-Golabi-Behmel syndrome, 2:1058

Wilson disease, 2:1198–1201 ,

1200–1201 dystonia, 1:370

sideroblastic X-linked anemia, 1:88

Windmill vane hand syndrome,

1:437–438, 2: 1030

Wireless endoscopy, hereditary colorectal cancer, 1:533

Wiskott, A., 2:1202

Wiskott-Aldrich syndrome (WAS),

2:1202–1205 , 1204

Witkop syndrome, 1:373

Wolf-Hirschhorn syndrome,

2:1205–1208

chromosomal deletions, 1:236 karyotype, 1:634

Wolman disease, 2:1208–1210

Woody Guthrie disease. See Huntington disease

World Health Organization, alpha-1 antitrypsin, 1:64

WRN gene, 2:1193–1194

WZS (Weissenbacher-Zweymuller syndrome), 2:1190–1192

I X

X chromosome

Aarskog syndrome, 1:1–2 adrenoleukodystrophy gene,

1:35–36

albinism disorders, 1:45 asplenia, 1:112–113

Bruton agammaglobulinemia, 1:178–179

carrier testing, 1:477–478 choroideremia, 1:230 Coffin-Lowry syndrome, 1:249 color blindness, 1:257 Duchenne muscular dystrophy,

1:360, 362 Fabry disease, 1:401

FG syndrome, 1:426–427 fragile X syndrome, 1:430–431 gene structure, 1:456 hemophilia, 1:524–525 hermaphroditism, 1:552–553 Hunter syndrome, 1:568 hypophosphatemia, 1:592 ichthyosis, 1:597–599 Klinefelter syndrome, 1:636–638 Opitz syndrome, 2:837–838

sex chromosome aneuploidy, 1:234–235

sex-linked inheritance, 1:607–610,

1:610

Simpson-Golabi-Behmel syndrome, 2:1056

Turner syndrome, 2:1155–1156

X-linked agammaglobulinemia,

1:178–181

X-linked arthrogryposis, 1:106

X-linked dominant inheritance, 1:607–609

X-linked hereditary bullous dystrophy, 2:988

X-linked hydrocephaly, 2:1214–1218 ,

1216

X-linked hypophosphatemia, 1:591–593

X-linked inheritance Aarskog syndrome, 1:2 amelia, 1:71–72

androgen insensitivity syndrome,

1:84

Charcot-Marie-Tooth disease, 1:220 Ehlers-Danlos syndrome, 1:376,

379

Emery-Dreifuss muscular dystrophy, 1:384–385 fragile X syndrome, 1:432

genetic disorders, 1:473–474 incontinentia pigmenti, 1:600–603 Leigh syndrome, 1:655–656 nephrogenic diabetes insipidus,

2:794–796

Opitz syndrome, 2:838 otopalatodigital syndrome,

2:863–865 Pelizaeus-Merzbacher disease,

2:899–900

Rett syndrome, 2:995 sideroblastic X-linked anemia,

1:87–89 Smith-Fineman-Myers syndrome,

2:1064–1065

X-linked mental retardation syndromes Renpenning syndrome, 2:987–989 Sutherland-Haan syndrome,

2:1105–1107

X-linked ocular albinism, 1:44

X-linked recessive inheritance adrenoleukodystrophy, 1:36–38 characteristics, 1:609

Kallman syndrome, 1:628 Kennedy disease, 1:635 Menkes syndrome, 2:729–730 Norrie disease, 2:822–823 ornithine transcarbamylase

deficiency, 2:847–848 pedigree analysis, 2:898–899

severe combined immunodeficiency, 2:1042–1043

Simpson-Golabi-Behmel syndrome, 2:1056–1057

X-linked recessive retinitis pigmentosa, 2:990

X-linked semi-dominant inheritance, 1:609–610

X-linked sideroblastic anemia. See Anemia, sideroblastic X-linked

X-linked tetra-amelia, 1:70

X-ray crystallography, DNA structure, 1:344

X-ray examinations alkaptonuria, 1:59 chondrosarcoma, 1:228 hypophosphatasia, 1:589–590 osteoarthritis, 2:855–856

osteogenesis imperfecta, 2:858–859 prostate cancer, 2:959

stomach cancer, 2:1101–1102 Weaver syndrome, 2:1189–1190

Xeroderma pigmentosum, 1:248,

2:1211–1214 , 1212–1213

XLIS mutations, 1:676 Xp22.3 locus, 1:39–40

XX male syndrome, 2:1218–1221 ,

1220

XYY syndrome, 2:1221–1223

I Y

Y chromosome

gene structure, 1:456 hermaphroditism, 1:552–553 sex chromosome aneuploidy,

1:234–235

sex determining region Y, 2:1091–1093

sex-linked inheritance, 1:607–610,

1:610

I Z

Z-DNA, 1:344 Zellweger, Hans, 2:1225

Zellweger syndrome, 2:1225–1227

Zinc supplement, Wilson disease, 2:1201

Zygote, 1:232, 2:1227–1230 , 1229

Index