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(Orofaciodigital Syndrome (Type I) (X-Linked A1770 2000 47 7. 3 8. 10(1) 5 6 —————————— 2[15(3)(a) 46 ] ( ) ( I ) ( X ) (Orofaciodigital syndrome (type I) (X-linked dominant, male lethal)) ( ) (Lenz ) (Microphthalmia with multiple anomalies (Lenz syndrome)) (Cerebellar ataxia) ( ) (Ectodermal dysplasia, anhidrotic) (Thyroxine-binding globulin, absence or variants of) (Albinism-deafness syndrome) (Cataract, congenital) (Dyskeratosis congenita) (Night blindness, congenital stationary) (FMRI ) (Mental retardation, FMRI type) (FRAXE ) (Mental retardation, FRAXE type) (MRXI ) (Mental retardation, MRXI type) (Myotubular myopathy) (Becker ) (Muscular dystrophy, Becker type) (Duchenne ) (Muscular dystrophy, Duchenne type) (Emery-Dreifuss ) (Muscular dystrophy, Emery-Dreifuss type) ( ) (Colour blindness, Protan type) ( ) (Colour blindness, Deutan type) ( X ) (Incontinentia pigmenti (X-linked dominant, male lethal)) A (Haemophilia A) B (Haemophilia B) (Bruton ) (Agammaglobulinaemia, Bruton type) ( ) (Agammaglobulinaemia, Swiss type) (Fabry ) (Angiokeratoma (Fabry’s disease)) (Hypophosphataemic rickets) A1772 2000 47 ( X ) (Focal dermal hypoplasia (X-linked dominant, male lethal)) ( ) (Diabetes insipidus, neurohypophyseal) (XY ) (Gonadal dysgenesis (XY female type)) (Aarskog ) (Faciogenital dysplasia (Aarskog syndrome)) (Choroidoretinal degeneration) (Spinal muscular atrophy) ( ) (Nystagmus, oculomotor or ‘jerky’) (Albinism, ocular) (steriod sulphatase ) (Ichthyosis (steriod sulphatase deficiency)) ( I ) (Ornithine transcarbamylase deficiency (type I hyperammonaemia)) (Choroideraemia) (Spastic paraplegia) (Adrenoleucodystrophy) (Adrenal hypoplasia) (Diabetes insipidus, nephrogenic) (Retinitis pigmentosa) (Retinoschisis) (Macular dystrophy of the retina) ( ) (Perceptive deafness, with ataxia and loss of vision) (DNFZ ) (Perceptive deafness, DNFZ type) (Testicular feminization syndrome) ( ) (Hydrocephalus (aqueduct stenosis)) 6 (Glucose 6-phosphate dehydrogenase deficiency) ( ) (Amelogenesis imperfecta, hypomaturation type) ( ) (Amelogenesis imperfecta, hypoplastic type) (Granulomatous disease (chronic)) ( VIII ) (Glycogen storage disease, type VIII) (Spondyloepiphyseal dysplasia tarda) (Thrombocytopenia, hereditary) (Anaemia, hereditary hypochromic) (Phosphoglycerate kinase deficiency) (Phosphoribosylpyrophosphate (PRPP) synthetase deficiency) II (Hunter ) (Mucopolysaccharidosis II (Hunter syndrome)) (Cerebral sclerosis, diffuse) Addison ( ) (Addison’s disease with cerebral sclerosis) Aldrich (Aldrich syndrome) Alport (Alport syndrome) Charcot-Marie-Tooth (Charcot-Marie-Tooth peroneal muscular atrophy) Coffin-Lowry (Coffin-Lowry syndrome) Ehlers-Danlos ( V ) (Ehlers-Danlos syndrome, type V) Kallmann (Kallmann syndrome) Lesch-Nyhan ( ) (Lesch-Nyhan syndrome (hypoxanthine-guanine-phosphoribosyl transferase deficiency)) Lowe ( ) (Lowe (oculocerebrorenal) syndrome) Menkes (Menkes syndrome) A1774 2000 47 Norrie’s ( ) (Norrie’s disease (pseudoglioma)) Reifenstein (Reifenstein syndrome) Spinulosa (Keratosis follicularis spinulosa) Xg (Xg blood group system) —————————— 3[48 ] 1. ( 212 ) 47A(8) “(8) 46 47 ( ) (a) (1)(b) (b) ” 2. ( 442 ) “37. (2000 (a) 28(5) 28(6) 47 ) (b) 29 ” 3. ( 480 ) 56B(2) “(2) “ ” (reproductive technology procedure) (2000 47 ) 2(1) ” 4. 5 A1776 2000 47 (a) 1 1 “ ” ““ ” (reproductive technology procedure) (2000 47 ) 2 ” (b) 2 4 3 “ ” “ ” ( ) 5. ( ) ( 486 ) “63A. (1) (2000 47 ) 6 18(1)(b) 33 (2) (1) 18(1)(b) 18(1)(a) ”.
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