t(1;18)(q32.1;q22.1) associated with genitourinary malformations

被引：5

作者：

Frizell, ER

Sutphen, R

Diamond, FB

Sherwood, M

Overhauser, J

机构：

[1] Thomas Jefferson Univ, Dept Biochem & Mol Pharmacol, Philadelphia, PA 19107 USA

[2] Thomas Jefferson Univ, Dept Med, Div Med Genet, Philadelphia, PA 19107 USA

[3] Univ S Florida, Dept Pediat, Tampa, FL 33620 USA

[4] Childrens Hosp, St Petersburg, FL USA

来源：

CLINICAL GENETICS | 1998年 / 54卷 / 04期

关键词：

balanced translocation; chromosome; 18; fluorescent in situ hybridization; genitourinary malformation; 18q-; syndrome;

D O I：

10.1034/j.1399-0004.1998.5440411.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a male infant who has impaired penile development, hypospadias, and mild developmental delay with a 46,XY,t(1;18)(q32.1; q22.1) karyotype, Fluorescent in situ hybridization (FISH) was performed to more precisely map the translocation breakpoint. The translocation breakpoint maps to a region that has been implicated in genitourinary malformations in the 18q- syndrome. This case report suggests that a gene involved in genitourinary development maps at or near the chromosome 18 translocation breakpoint.

引用

页码：330 / 333

页数：4

共 13 条

[1]

Brown T. R., 1995, P40

[2]

BUYSE ML, 1990, BIRTH DEFECTS ENCY, V1, P382

[3] CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL CAUSED BY MUTATIONS IN AN SRY-RELATED GENE [J].