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