Interstitial deletion 11q - Case report and review of the literature

被引：0
|
作者：
De Pater, JM
Ippel, PF
Bijlsma, JB
Van Nieuwenhuizen, O
机构：
[1] Clin Genet Ctr, NL-3501 CA Utrecht, Netherlands
[2] Wilhelmina Childrens Hosp, Dept Child Neurol, Utrecht, Netherlands
来源：
GENETIC COUNSELING | 1997年 / 8卷 / 04期
关键词：
interstitial deletion; 11q; partial monosomy 11q;
D O I：
暂无
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
A mildly retarded male with a unique interstitial deletion 11 (pter-->q22.3 ::q23.2-->qter) is described. To the best of our knowledge this patient is the first case with this specific type of deletion. The clinical features and cytogenetic findings of this patient are compared with those of previously reported cases with interstitial deletions 11q and patients with terminal deletions involving band 11q24.1 (leading to the so-called Jacobsen syndrome).
引用
收藏
页码：335 / 339
页数：5
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