PARTIAL MONOSOMY FOR CHROMOSOME 22 IN A PATIENT WITH DEL(22)(PTER-]Q13 1=Q13 33-]QTER)

被引：37

作者：

ROMAIN, DR ^{[1
]}

GOLDSMITH, J ^{[1
]}

CAIRNEY, H ^{[1
]}

COLUMBANOGREEN, LM ^{[1
]}

SMYTHE, RH ^{[1
]}

PARFITT, RG ^{[1
]}

机构：

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

来源：

JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 09期

关键词：

D O I：

10.1136/jmg.27.9.588

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

An 18 month old girl with partial monosomy for the long arm of chromosome 22 is described. The karyotype was 46,XX,del(22)(pter→q13.1::q13.33→qter). To our knowledge this is the first report of monosomy for this specific segment of chromosome 22. Clinical features include developmental delay in all areas, hypotonia, macrosomia, full cheeks, eyebrows, and eyelids, mild epicanthus, wide nasal bridge, long philtrum, and thick lower lip. Parental chromosome studies were normal.

引用

页码：588 / 589

页数：2

共 7 条

[1] THE GENE ENCODING THE HUMAN PREPROACROSIN (ACR) MAPS TO THE Q13-QTER REGION ON CHROMOSOME-22 [J].