FAMILIAL T(11 13) (Q21 Q14) AND THE DUPLICATION 11Q, 13Q PHENOTYPE

被引：17
|
作者：
PARK, JP
MCDERMET, MK
DOODY, AM
MARINPADILLA, JM
MOESCHLER, JB
WURSTERHILL, DH
机构：
[1] DARTMOUTH COLL,HITCHCOCK MED CTR,DEPT PATHOL,HANOVER,NH 03756
[2] DARTMOUTH COLL,HITCHCOCK MED CTR,CTR CLIN GENET & CHILD DEV,HANOVER,NH 03756
[3] DARTMOUTH COLL,DEPT BIOL SCI,HANOVER,NH 03755
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 45卷 / 01期
关键词：
CHROMOSOME; CYTOGENETIC; DUP(11Q); DUP(13Q); NEURAL TUBE DEFECTS; TRANSLOCATION;
D O I：
10.1002/ajmg.1320450113
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Cases of duplication of distal 11q or proximal 13q have been reported independently. A specific translocation resulting in duplication of distal 11q, [der(22)t(11;22)(q23;q11)], has been documented in over 40 cases. We report on a male fetus with chromosomal excess of both distal 11q and proximal 13q resulting from a familial translocation. This case supports the causal association of duplication 11q with neural tube defects.
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收藏
页码：46 / 48
页数：3
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