DUPLICATION-6Q SYNDROME

被引：20

作者：

TIPTON, RE

BERNS, JS

JOHNSON, WE

WILROY, RS

SUMMITT, RL

机构：

[1] UNIV TENNESSEE,CTR HLTH SCI,DEPT ANAT,MEMPHIS,TN 38163

[2] UNIV TENNESSEE,CTR HLTH SCI,CTR CHILD DEV,MEMPHIS,TN 38163

[3] CASE WESTERN RESERVE UNIV,DEPT MED,CLEVELAND,OH 44106

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1979年 / 3卷 / 04期

关键词：

D O I：

10.1002/ajmg.1320030403

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Duplication (partial trisomy) of the long arm of chromosome 6 has been described in 5 children. The authors wish to report here an additional case due to a familial translocation in which the proband's karyotype is 46,XX,der(3),rcp(3;6)(p25;q21)mat. The phenotypes of the 6 children with duplication 6q are strikingly similar. Each child has duplication involving approximately the distal 1/3 to 1/2 of the long arm of chromosome 6. Distinctive features present in all 6 children include microcephaly, acrocephaly, prominent forehead, flat facial profile, depressed nasal bridge, flat malar areas, 'carp' mouth, micrognathia and mental retardation. The phenotype of the duplication 6q syndrome is distinctive enough to be clinically recognizable.

引用

页码：325 / 330

页数：6