一名活产婴儿的四倍体现象。

Tetraploidy in a liveborn infant.

作者信息

López Pajares I, Delicado A, Diaz de Bustamante A, Pellicer A, Pinel I, Pardo M, Martin M

机构信息

Laboratory of Medical Genetics, Hospital La Paz, Madrid, Spain.

出版信息

J Med Genet. 1990 Dec;27(12):782-3. doi: 10.1136/jmg.27.12.782.

DOI:10.1136/jmg.27.12.782

PMID:2074564

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1017283/

Abstract

We report a 3 month old boy with tetraploidy, found in peripheral blood and skin fibroblast cultures, with severely delayed growth and neurodevelopment, and with a cleft lip; these findings have not been described before. This report brings to seven the total number of liveborn infants with a 92,XXYY karyotype.

摘要

我们报告了一名3个月大的患有四倍体的男婴，在外周血和皮肤成纤维细胞培养中发现了这种情况，该男婴生长和神经发育严重迟缓，并有唇裂；这些发现此前未曾有过描述。本报告使具有92,XXYY核型的活产婴儿总数增至7例。