DISTAL 2Q DUPLICATION - REPORT OF 2 FAMILIAL CASES AND AN ATTEMPT TO DEFINE A SYNDROME

被引：28

作者：

ZANKL, M

SCHWANITZ, G

SCHMID, P

ZANKL, H

DOCKTER, G

RODEWALD, A

ZANG, KD

GROSSE, KP

机构：

[1] UNIV ERLANGEN NURNBERG,INST HUMAN GENET & ANTHROPOL,D-8520 ERLANGEN,FED REP GER

[2] UNIV ERLANGEN NURNBERG,CHILDRENS HOSP,D-8520 ERLANGEN,FED REP GER

[3] UNIV SAARLAND,CHILDRENS HOSP,D-6650 HOMBURG,FED REP GER

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1979年 / 4卷 / 01期

关键词：

D O I：

10.1002/ajmg.1320040103

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Two cases of partial trisomy 2q are described, both resulting from a balanced translocation in one of the parents. In one case the chromosomes 2 and 11 were involved [paternal karyotype: 46,XY,t(2;11)(q33;q23)]; in the second case, chromosomes 2 and 8 [paternal karyotype: 45,XY,t(2;8)(q32;p23)]. When the two patients were compared to the few cases reported in the literature it was concluded that the associated clinical syndrome is characterized by severe psychomotor retardation and relatively mild abnormalities involving skull and facies.

引用

页码：5 / 16

页数：12

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