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两名患有不同先天性异常的婴儿出现7号染色体部分单体性并伴有中间缺失。

Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities.

作者信息

Crawfurd M D, Kessel I, Liberman M, McKeown J A, Mandalia P Y, Ridler M A

出版信息

J Med Genet. 1979 Dec;16(6):453-60. doi: 10.1136/jmg.16.6.453.

Abstract

Two cases of interstitial deletion of chromosome 7 are presented, one involving the short arm and the other the long arm. The cytogenetic, dermatoglyphic, and clinical findings are compared with previously reported cases of chromosome 7 deletion. The patient with a short arm deletion differs clinically from the previously reported cases but, in common with a least one previous case, has a low total finger ridge count. His interstitial deletion involving the 7p13 leads to 7p21 region also differs from 7p deletions reported in earlier cases. The patient with a long arm deletion has an interstitial loss of the region between 7q11 and 7q21, corresponding to one of three groups of 7q deletion that have been recognised. The phenotypic changes in this group are less well defined than in the other two and the patient presented here differs clinically from the previously reported cases, apart from one phenotypically normal mosaic case, in lacking morphological abnormalities. He shares with one previous case both epilepsy and a high intensity of dermal ridge patterns.

摘要

本文报告了两例7号染色体间质性缺失病例,一例涉及短臂,另一例涉及长臂。将细胞遗传学、皮纹学和临床检查结果与先前报道的7号染色体缺失病例进行了比较。短臂缺失患者的临床表现与先前报道的病例不同,但与至少一例先前病例相同,其总指嵴数较低。他涉及7p13至7p21区域的间质性缺失也与早期病例报道的7p缺失不同。长臂缺失患者在7q11和7q21之间的区域存在间质性缺失,这与已确认的三组7q缺失之一相对应。该组的表型变化不如其他两组明确,除了一例表型正常的嵌合病例外,本文报道的患者在临床表现上与先前报道的病例不同,没有形态学异常。他与之前的一例病例都患有癫痫且皮嵴模式强度较高。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/908b/1012593/6dc73939a51c/jmedgene00295-0047-a.jpg

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