Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype.
作者信息
Khalifa M M, MacLeod P M, Duncan A M
机构信息
Department of Paediatrics, Kingston General Hospital, Ontario, Canada.
出版信息
Clin Genet. 1993 Nov;44(5):258-61. doi: 10.1111/j.1399-0004.1993.tb03893.x.
Abstract
A child with multiple congenital abnormalities and a de novo interstitial deletion of the long arm of chromosome 17 is reported. This is the third case reported with this chromosome abnormality. The three cases present a peculiar phenotype, which is probably specific to the deletion.
摘要
Zotero 插件