导致猫叫综合征的Y/5易位。
Translocation Y/5 resulting in Cri du Chat syndrome.
作者信息
Vignetti P, Chessa L, Bruni L, Ferrante E, Dallapiccola B
出版信息
Clin Genet. 1977 Dec;12(6):319-22. doi: 10.1111/j.1399-0004.1977.tb00949.x.
Abstract
A case of 45,X,del(5)(p14/45,X,t(Y;5)(q11;p14) mosaicism is described. The patient displays the clinical features of the Cri du Chat syndrome, together with gross malformation of the distal left arm. The presence of male sex development is consistent with the location of factor(s) controlling the male sex determination in the paracentromeric area of the Y chromosome.
摘要
描述了一例45,X,del(5)(p14)/45,X,t(Y;5)(q11;p14)嵌合体病例。患者表现出猫叫综合征的临床特征，同时左上肢远端严重畸形。男性性发育的存在与Y染色体着丝粒旁区域控制男性性别决定的因子的位置一致。
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