遺傳性疾病ppt課件-wenkub
2023-03-08 22:14:56 本頁(yè)面
【正文】 se their trisomy cells are interspersed with normal cells. Etiology of trisomy 21 Nondisjunction of chromosome 21 in meiosis Etiology of translocation down syndrome During prophase of meiosis in a parent,there may be a transfer of a portion of one chromosome to another Etiology of mosaic down syndrome death Develop to a mosaic down syndrome Nondisjunction of zygote during early stage TURNER SYNDROME ?Karyotype of turner syndrome is 45 XO ?affected individuals are female in appearance , ovarian dysgenesis causing inferity, short stature, webbing of the neck, wildly spread nipples, cubitus valgus. Klinefelter Syndrome ?Karyotype is 47,XXY ?the typical clinical features include male in appearance, inferity, gynaeastia in adolessence, mental retardation, high and thin stature (usually over 180cm) 47 XYY Syndrome ?Karyotype is 47 XYY ?The affected individuals are male in appearance, high and thin with increased tendency to be violent and so are more mon in prison or to be a hero in wartime. END Phenylketouria (PKU) ?Autosomal recessive disease ?inborn error of metabolism ?reason is the lack of phenylalanine hydroxylase or an essential cofactor(BH4) ?mental retardation and seizure ?dietary phenylalanine restriction in early infant is very important for mental development. Clinical manifestations of
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