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一名3号染色体短臂部分缺失的患者:核型为46,XY,del(3)(p25) 。

A second patient with partial deletion of the short arm of chromosome 3: karyotype 46,XY,del(3)(p25).

作者信息

Higginbottom M C, Mascarello J T, Hassin H, McCord W K

出版信息

J Med Genet. 1982 Feb;19(1):71-3. doi: 10.1136/jmg.19.1.71.

Abstract

A child with monosomy for the distal part of the short arm of chromosome 3 is presented. Altered features include prenatal onset growth deficiency, postaxial polydactyly, ptosis, ear anomalies, and a triangular facial appearance. In addition to generalised delay in psychomotor development, specific problems in visual attention were present. Comparison with the previously reported case suggests that the phenotype observed constitutes a clinically recognisable pattern of malformation.

摘要

本文报告了一名3号染色体短臂远端单体性的患儿。其异常特征包括产前起病的生长发育迟缓、轴后多指(趾)畸形、上睑下垂、耳部异常以及三角形面容。除了精神运动发育普遍延迟外,还存在视觉注意力方面的特定问题。与先前报道的病例比较表明,所观察到的表型构成一种临床上可识别的畸形模式。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1dd9/1048824/9742a486dfb4/jmedgene00111-0080-a.jpg

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