De novo terminal deletion of chromosome 7 [46,XX,del(7)(q35)].
作者信息
Lo B H, Murch A, Chabros V, Withnell R
机构信息
Disability Services Commission, Perth, Australia.
出版信息
J Paediatr Child Health. 1996 Aug;32(4):347-9. doi: 10.1111/j.1440-1754.1996.tb02568.x.
Abstract
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.
摘要
Zotero 插件