与4号染色体长臂三体相关的多种先天性缺陷。
Multiple congenital defects associated with trisomy for long arm of No. 4.
作者信息
Issa M, Potter A M, Blank C E
出版信息
J Med Genet. 1976 Aug;13(4):326-9. doi: 10.1136/jmg.13.4.326.
Abstract
The clinical and cytogenetic findings of a male infant with multiple congenital anomalies and trisomy for the distal third of the long arm of No. 4 are described. The abnormal chromosome was inherited from the mother who had a balanced translocation, t(4;9)(q31;q34). Trisomy for the long arm of No. 4 has previously been described in only 3 patients.
摘要
本文描述了一名患有多种先天性异常且4号染色体长臂远端三分之一三体性的男婴的临床和细胞遗传学发现。异常染色体遗传自其母亲，其母亲有一条平衡易位染色体t(4;9)(q31;q34)。此前仅在3例患者中描述过4号染色体长臂三体性。
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