Volume 2

Principles and practice of medical genetics / editors, Alan E.H. Emery, David L. Rimoin ; assistant editor, Jeffrey A. Sofaer ; editorial assistant, A.P. Garber ; foreword by Victor A. McKusick.

Date:
1983
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Principles and practice of medical genetics / editors, Alan E.H. Emery, David L. Rimoin ; assistant editor, Jeffrey A. Sofaer ; editorial assistant, A.P. Garber ; foreword by Victor A. McKusick. Source: Wellcome Collection.

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    Psychotropic agents, teratogenicity, 144 Pterygium syndrome multiple webs, 788 lethal, CNA defects, 796 popliteal, 790 with facial clefts, 798 Ptosis in myasthenia gravis, 443 Ptyroglutamic acidaemia, 1254 Pulmonary branch stenosis teratogenic cause, 947, 952 disease, role of a,AT deficiency, 923-924 screening programmes, 926-927 emphysema a,-antitrypsin deficiency, function, 912-913 enzymes affected, 912 inherited vs acquired, 913 leucocytic protease relationships, 927-928 role in predisposition, 923-924 screening programmes, 926-927 fibrosis, genetics, 1416 Pulmonic stenosis, 949-950 chromosome anomaly, 951 LEOPARD syndrome, 952 teratogenic cause, 947, 952 Pulverisation, chromosome definition, 168 Punctate calcification and ichthyosis, 665 oculocutaneous albinoidism see Albinoidism Puretic syndrome, 792 Purine metabolism, disorders, 1286-1297 enzyme defects, 1287-1294 immunodeficiency diseases, 1294-1297 enzyme defects, 1295 nucleoside phosphorylase deficiency, 1096, 1102-1103, 1295-1296 overproduction glycogen storage disease, 1289 gout, 1289 Lesch-Nyhan disease, 1291 Pycnodysostosis, 614, 742 Pyloric stenosis congenital, 879-885 clinical features, 879 differential diagnosis, 879-880 epidemiology, 880-881 genetics, 881-882 mechanism of inheritance, 882-884 pathology, 879 relatives affected, 881-882 inheritance, 882-884 sequelae, 880 sex and birth rank, 113 survival, 880 therapy, 880 developmental problems, 154 empiric risks, 1431 hypertrophic differentiation from sensory disorders, 291 Pyridostigmine bromide in myasthenia gravis, 444 Pyridoxine-dependent convulsions, 248 Pyrimethamine, teratogenicity, 141 Pyrimidine metabolism, disorders, 1297-1298 -5'-nucleotidase, deficiency, 1055 in non-spherocytic haemolytic anaemia, 1298 Pyroglutamic acidaemia, 1314-1315 spino-cerebellar disorders, 269 Pyruvate carboxylase deficiency, 1280 dehydrogenase complex deficiencies, 1280-1281 biochemical aspects, 1280 dystonia, 260 Friedreich ataxia, 273 and spino-cerebellar disorders, 269 treatment, 1281 kinase (PK) deficiency, 1051, 1052 Quadriceps myopathy, 396 Quinacrine (Q) banding techniques and patterns, 50-56 staining, nomenclature, 163 code descriptions, 169 quantitation of variations, 169 R-banding (reverse), nomenclature, 163 code descriptions, 169 Rachischisis, spinal, 231 Radial formations, definition, 168 Radiation carcinogenesis, 134, 135 ionizing, and induced mutation, 40-43 early statements, 46 experimental studies, 40-42 monitoring large populations, 46 population radiation load and consequences, 42-43 mutagenesis, 134, 135 teratogenicity, 134-135 lower doses, 135 Radii, absent, and thrombocytopenia inheritance, 70 Radiography in prenatal diagnosis, 1473-1474 disorders diagnosable, 1474 Radio humeral synostosis syndrome cleft palate, 607 and holoprosencephaly, 579 Radio ulnar synostosis syndrome, 769, 784 Raindrop hypopigmentation, 635 RAPID genetic register system, 1482 Rapp-Hodgkin syndrome, cleft lip-palate, 597 Reciprocal translocations, terminology, 171 Recombinant DNA see Genetic, engineering Rectum, adenomas, 892, 894-895 Recurrent erosive corneal dystrophy, 497 Red cell antigens and parentage testing, 1498 enzyme deficiencies, haemolytic disorders, 1049-1051 shape anomalies, 1044 5a-Reductase deficiency, 1232-1233 Reese disease see Retinal dysplasia Refractory sideroblastic anaemias, 1059 chromosomal changes, 1083 and idiopathic haemochromatosis, 1334-1335 Refsum disease, 268, 277-278, 468 biochemistry, 278 and cataract, 518 clinical description, 277-278, 1381 differential diagnosis from sensory disorders, 291 genetics, 278, 1382 inheritance pattern, 525, 526 pathology, 278 patient evaluation, 1383 prenatal diagnosis, 1384 prevention, 1383-1384 substrate depletion, 1492 treatment, 278, 1384 xeroderma, 278 see also Phytanic acid storage disease Regional chromosome mapping, 98-99 Register for the Ascertainment and Prevention of Inherited Disease (RAPID), 1482 genetic, 1481-1487 see also Genetic registers Reifenstein syndrome, 1231-1232 Reiger syndrome, hypodontia, 610 Reis-Bücklers dystrophy, 498 Renal agenesis, 987-991 aetiology, 988 bilateral, 987, 988 chromosome abnormalities, 989 empiric risks, 1431 oligohydramnios triad, 987 pathogenesis, 988 prenatal diagnosis, 989-991 syndromes, 990-991 unilateral, 988 cell carcinoma, 994 dysfunction and deafness, 569 dysplasia, 991-992 aplastic kidney, 992 clinical types, 992 multicystic kidney, 992 and retinal aplasia, 525 genital and middle ear malformations, 570 tubular acidosis and deafness, 570 tumours, 993-995 associated syndromes, 994 Renpenning syndrome, 218, 221 Reproductive system tumours, 1410-1412 Respiratory adaptation, neonatal, and structural defects, 153 disease and situs inversus in Kartagener syndrome, 936-944 see also Kartagener syndrome tract cancer, genetics, 1416 Restless legs syndrome, 258 Restriction endonuclease analysis, 4, 1467