Trisomy 7p: Report of 2 patients and literature review

被引：0
|
作者：
Arens, YHJM
Toutain, A
Engelen, JJM
Offermans, JPM
Hamers, AJH
Schrander, JJP
Pulles-Heintzberger, CFM
Schrander-Stumpel, CTRM
机构：
[1] Acad Hosp Maastricht, Dept Clin Genet, Maastricht, Netherlands
[2] Acad Hosp Maastricht, Dept Obstet, Maastricht, Netherlands
[3] Acad Hosp Maastricht, Dept Pediat, Maastricht, Netherlands
[4] CHU Tours, Serv Genet, Tours, France
来源：
GENETIC COUNSELING | 2000年 / 11卷 / 04期
关键词：
trisomy; 7p; mental retardation;
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：
Both were assessed by facial dysmorphism and congenital anomalies. In one of the patients trisomy 7p was a de novo event, in the other patient unbalanced inheritance of a parental translocation caused trisomy 7p. Developmental delay was severe in both. Our 2 cases are compared with patients reported in literature.
引用
收藏
页码：347 / 354
页数：8
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