DOUBLE CHROMOSOME ANOMALY - INTERSTITIAL DELETION 5Q AND RECIPROCAL TRANSLOCATION (1-11)(P22-Q21)

被引：14

作者：

DEMICHELENA, MI

VILLACORTA, J

CHAVEZ, J

机构：

[1] UNIV PERUANA CAYETANO HEREDIA, DEPT MORPHOL SCI, LIMA, PERU

[2] INST SALUD NINO, DEPT GENET, LIMA, PERU

[3] COMPLEJO HOSP DANIEL CARRION, DEPT PEDIAT, LIMA, PERU

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 36卷 / 01期

关键词：

chromosome; 5; 1; 11; multiple congenital malformations; double chromosome anomaly; 5q-phenotype;

D O I：

10.1002/ajmg.1320360107

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a girl with multiple congenital abnormalities and developmental delay; her karyotype showed an apparently balanced translocation between the short arm of chromosome 1 and the long arm of chromosome 11, and an interstitial deletion of the long arm of chromosome 5 (q15q31). The clinical findings are compared with those described in other cases of 5q deletion, and the origin of the chromosome rearrangements is briefly discussed.

引用

页码：29 / 32

页数：4

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