De novo terminal deletion of chromosome 7 [46,XX,del(7)(q35)]

被引：4

作者：

Lo, BH

Murch, A

Chabros, V

Withnell, R

机构：

[1] DISABIL SERV COMMISS,PERTH,WA,AUSTRALIA

[2] KING EDWARD MEM HOSP,PERTH,WA,AUSTRALIA

来源：

JOURNAL OF PAEDIATRICS AND CHILD HEALTH | 1996年 / 32卷 / 04期

关键词：

developmental delay; 46; XX; del(7)(q35); microcephaly;

D O I：

10.1111/j.1440-1754.1996.tb02568.x

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Objective: To report a new case of de novo 7q deletion distal to q35. Methodology: Developmental, cytogenetic and audiological investigations were carried out in the assessment of this rare chromosomal condition. Results: Moderate developmental delay, mild congenital microcephaly, growth retardation and conductive hearing impairment were found for this case of 46,XX,del(7)(q35). Conclusions: The phenotype of 7q terminal deletion is highly variable.

引用

页码：347 / 349

页数：3

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