由于父亲5号染色体臂间倒位（p15.1q35.1）导致的5p部分单体性和5q部分三体性。

Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion 5(p15.1q35.1).

作者信息

Sonoda T, Kawaguchi K, Ohba K, Madokoro H, Ohdo S

出版信息

Jinrui Idengaku Zasshi. 1989 Jun;34(2):129-34. doi: 10.1007/BF01912481.

DOI:10.1007/BF01912481

Abstract

A male infant with karyotype 46,XY,rec(5),dup q,inv(5)(p15.1 q35.1)pat is presented. The proband showed growth and developmental retardation, complex cardiovascular abnormalities, inguinal hernia and microcephaly in addition to facial appearance and cat-like cry characteristic of the cri-du-chat syndrome. Growth and developmental retardation, and microcephaly noted in this patient were markedly more serious than those observed in patients either with partial monosomy 5p or with partial trisomy 5q alone.

摘要

本文报告了一名核型为46,XY,rec(5),dup q,inv(5)(p15.1 q35.1)pat的男婴。先证者除具有猫叫综合征典型的面容和猫叫样哭声外，还表现出生长发育迟缓、复杂的心血管异常、腹股沟疝和小头畸形。该患者出现的生长发育迟缓和小头畸形比单纯5p部分单体或5q部分三体患者所观察到的更为严重。