(Orofaciodigital Syndrome (Type I) (X-Linked

A1770 2000 47

8. 10(1) 5 6

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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)

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