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3号染色体短臂部分缺失。1例报告(作者译)

[Partial deletion of the short arm of chromosome 3. Report of a case (author's transl)].

作者信息

Gonzales J, Lesourd S, Braconnier A

出版信息

Ann Genet. 1980;23(2):119-22.

PMID:6967285
Abstract

A patient with partial deletion 3p is reported. Only one other patient has been previously reported in the literature. Features the two share include microcephaly, failure to thrive, ptosis, symophrys, a broad and flat nose, a prominent maxilla, an over developed chin, and an increased number of loops on the finger tips. These observations are compared in type and countertype with known observations of trisomy 3p and of 3q duplication/3p deletion.

摘要

报道了一名患有3p部分缺失的患者。此前文献中仅报道过另外一名患者。这两名患者共有的特征包括小头畸形、发育不良、上睑下垂、连眉、宽扁鼻、上颌突出、下巴过度发育以及指尖襻数增加。将这些观察结果与已知的3p三体以及3q重复/3p缺失的观察结果进行了典型与非典型的比较。

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