猫叫综合征与易位t(5p--;18p+)
Cri du chat syndrome and translocation t(5p--;18p+).
作者信息
Abrisqueta J A, Perez A, Aller V, Del Mazo J, Goday C, Martin M A, De Torres M L
出版信息
J Genet Hum. 1976 Sep;24(3):173-82.
PMID:1003171
Abstract
Two new cases of "cri du chat" syndrome are reported in sisters aged 2 years and one month, respectively. These cases allowed us to detect a translocation t(5p--;18p+) in the mother and to study the familial segregation of this structural chromosome anomaly. At the same time, results from the dermatoglyphic analysis of the propositi as well as those of the carriers of the translocation are also reported.
摘要
分别报告了两例“猫叫综合征”新病例，患者为姐妹，年龄分别为2岁和1个月。这些病例使我们在母亲身上检测到了一种易位t(5p--;18p+)，并研究了这种染色体结构异常的家族性分离情况。同时，也报告了先证者以及易位携带者的皮纹分析结果。
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