一名具有轻度表型特征的女孩发生双独立平衡易位。
Double independent balanced translocation in a girl with mild phenotypical stigmata.
作者信息
D'Avanzo M G, Colantuoni M, Sirone P, de Castris L, Perone L, Fiore M, Ventruto V
出版信息
Ann Genet. 1986;29(1):62-4.
PMID:3487281
Abstract
A case of de novo double independent balanced translocation t(1;7)(q44;q22), t(8;10)(q22;q26) in a girl with mild phenotypical stigmata is reported. Beside hyposomia with retarded bone age and slightly dysmorphic ear, no other abnormality was detectable and the psychomotor development was normal. A review of the similar casuistry in literature is made.
摘要
报道了一名患有轻度表型特征的女孩发生新发双独立平衡易位t(1;7)(q44;q22)，t(8;10)(q22;q26)的病例。除了身材矮小、骨龄延迟和耳部轻度畸形外，未检测到其他异常，且精神运动发育正常。本文对文献中类似的病例进行了综述。
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