一例49,XXXY，+18的活产病例。

A liveborn case of 49,XXXY, + 18.

作者信息

Kardon N B, Berger A L, Elice M, Davis J G, Jenkins E C

出版信息

J Med Genet. 1980 Oct;17(5):389-90. doi: 10.1136/jmg.17.5.389.

DOI:10.1136/jmg.17.5.389

PMID:7194375

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1048605/

Abstract

The first case of a liveborn male infant trisomic for both the X and the No 18 chromosome is presented. The patient had multiple congenital anomalies many of which were similar in appearance to patients with trisomy 18. The proband died after 2 days. Both maternal and paternal karyotypes were normal.

摘要

本文报告了首例存活的、X染色体和18号染色体均三体的男婴病例。该患者有多种先天性畸形，其中许多在外观上与18三体患者相似。先证者在2天后死亡。父母双方的核型均正常。