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.

引用

页码：46 / 48

页数：3

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