9号染色体短臂三体伴9号染色体短臂等臂染色体及Yq部分单体
[Trisomy of the short arm of 9 with isochromosome 9p and partial monosomy Yq].
作者信息
Geneix A, Jaffray J Y, Charbonne F, Perissel B, Malpuech G, Malet P, Roland M O
出版信息
Ann Genet. 1983;26(2):103-5.
PMID:6604482
Abstract
A patient with trisomy 9p in association with monosomy of the heterochromatic distal portion of the Y chromosome is reported. The rearrangement is probably due to malsegregation of a translocation 9p, Y and formation of an iso (9p). The phenotype of the patient is characteristic of trisomy 9p. There is a significant increase of GALT activity.
摘要
报告了一名9号染色体短臂三体合并Y染色体异染色质远端单体的患者。这种重排可能是由于9号染色体短臂、Y染色体的易位错误分离以及等臂（9号染色体短臂）的形成所致。该患者的表型具有9号染色体短臂三体的特征。半乳糖-1-磷酸尿苷酰转移酶（GALT）活性显著增加。
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