额外小染色体异常：三例报告，其中一例伴有5号染色体家族性倒位。
Supernumerary small chromosomal anomaly: report of three cases including one with a familial inversion of chromosome 5.
作者信息
Lee M l, Schneider J, Wasant P, Yu C Y, Trpis L, Liang Y W, Lewis B M, Borkowf S, Borgaonkar D S
出版信息
J Genet Hum. 1978 Sep;26(3):275-85.
PMID:739263
Abstract
Three cases of a small supernumerary chromosomal anomaly of essentially unknown origin associated with wide variability of clinical expression are reported. Case II has, in addition, a pericentric inversion of chromosome 5, which enables us to propose a mechanism, involving an unsuccessful crossing over, for the origin of the supernumerary chromosome.
摘要
报告了3例来源基本不明的小额外染色体异常病例，其临床表型具有广泛变异性。此外，病例II存在5号染色体臂间倒位，这使我们能够提出一种涉及交叉失败的机制来解释额外染色体的起源。
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