一个遗传三代的inv(Y)(pll.2qll.2)家系

THREE GENERATIONS BELONGED TO A HEREDITARY FAMILY

对一个全身性肌肉萎缩患者的细胞遗传学检查结果,发现染色体核型为46,X,inv(Y)(p11.2q11.2).家系分析表明先证者之胞弟及二个儿于都有相同的inv(Y),但无表型异常。并就其inv(Y)的遗传通径及遗传咨询进行了扼要的讨论。

A 36-year-old man with p-rogressive muscular dystrophy was observed with cytogenetic method. The result showed that the kary-otype of the patient was 46,X, inv(Y) (pll.2q11.2 ),The p-edigree analysis revealed that one brother and two sons of the pro-band's were with the same inv(Y) but didn't manifested any abnormality.The genetic channel of in-v(Y) and genetic counsel of it were also discussed in this paper.