PARTIAL TRISOMY FOR 2Q IN A PATIENT WITH DIR DUP(2)(Q33.1Q35)

被引：21

作者：

ROMAIN, DR ^{[1
]}

MACKENZIE, NG ^{[1
]}

MOSS, D ^{[1
]}

COLUMBANOGREEN, LM ^{[1
]}

SMYTHE, RH ^{[1
]}

PARFITT, RG ^{[1
]}

DIXON, JW ^{[1
]}

机构：

[1] WANGANUI HOSP,DEPT PAEDIAT,WANGANUI,NEW ZEALAND

来源：

JOURNAL OF MEDICAL GENETICS | 1994年 / 31卷 / 08期

关键词：

D O I：

10.1136/jmg.31.8.652

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 22 year old woman with partial trisomy for the long arm of chromosome 2 is described. The karyotype is 46,XX, dir dup(2)(q33.1q35) de novo confirmed by FISH using a chromosome 2 specific paint. Parental chromosome studies were normal. To our knowledge this is the first report of trisomy for this specific segment of 2q and only the sixth case of de novo direct duplication of 2q, one of which was mosaic. Clinical features include epicanthus, clinodactyly, scoliosis, broad, flat nasal bridge, thin upper lip, long philtrum, and short neck.

引用

页码：652 / 653

页数：2

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