一名异常婴儿中出现的6号染色体新的臂间倒位。
A new pericentric inversion of chromosome 6 in an abnormal infant.
作者信息
Duckett D P, Roberts S H
出版信息
Ann Genet. 1980;23(2):117-8.
PMID:6967284
Abstract
An apparently de novo case of a previously unreported pericentric inversion of a No. 6 chromosome present in an abnormal infant is described. The possibility of an association between the abnormal karyotype and phenotype is discussed. The authors express the desirability for precise documentation of balanced chromosomal rearrangements.
摘要
本文描述了一例明显为新发的6号染色体臂间倒位病例，该病例存在于一名异常婴儿中，此前未见报道。文中讨论了异常核型与表型之间存在关联的可能性。作者表示需要对平衡染色体重排进行精确记录。
Zotero 插件