[因母亲的易位t(2;7)(q321;p22)发生错误分离导致的2号染色体长臂部分三体]
[Partial trisomy of the long arm of chromosome 2 by malsegregation of a maternal translocation t(2;7)(q321;p22)].
作者信息
Siffroi J P, Romani F, Viguié F, Lejeune C
出版信息
Ann Genet. 1984;27(4):241-4.
PMID:6335372
Abstract
A patient with partial trisomy 2q due to the malsegregation of a balanced maternal (2;7) translocation is reported. The proposita, who died a few hours after birth, presented the characteristic clinical features: microcephaly, prominent forehead, hypertelorism, depressed nasal bridge, upturned nostrils. Her karyotype was 46,XX,der(7),t(2;7)(q321;p22) mat.
摘要
报道了一名因母亲平衡的（2；7）易位染色体不分离导致2q部分三体的患者。先证者出生后数小时死亡，具有以下特征性临床特征：小头畸形、前额突出、眼距过宽、鼻梁凹陷、鼻孔上翻。其核型为46,XX,der(7),t(2;7)(q321;p22) mat。
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