t(1;18)(q32.1;q22.1) associated with genitourinary malformations
- 1 October 1998
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 54 (4) , 330-333
- https://doi.org/10.1034/j.1399-0004.1998.5440411.x
Abstract
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.Keywords
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