期刊
AMERICAN JOURNAL OF MEDICAL GENETICS
卷 101, 期 1, 页码 65-69出版社
WILEY-LISS
DOI: 10.1002/ajmg.1295
关键词
tetrasomy 18p; isochromosome; meiosis; centromeric misdivision
The syndrome of tetrasomy 18p has been well documented in the literature. This is typically a result of a supernumerary isochromosome 18p, that has arisen during maternal meiosis II. This report presents clinical and molecular findings in two maternal half sisters with an isochromosome 18p, The isochromosome is inferred to have arisen during meiosis in the maternal grandmother and to have undergone mitotic and meiotic recombination in the mother of JJ and AT. The abnormal cell line may be restricted to the gonad in the mother as only normal 46,XX cells were detected by cytogenetic analysis of her blood or fibroblasts and physical examination revealed only normal findings, Thus, the isochromosome, although present at fertilization, must have been lost from the majority of embryonic precursor cells, This case raises important genetic counseling issues concerning recurrence risks. (C) 2001 Wiley-Liss, Inc.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据