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Updated: Aug 12, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
t(1;18)(q32.1;q22.1) associated with genitourinary malformations
E R Frizell1, R Sutphen, F B Diamond
1Department of Biochemistry and Molecular Pharmacology, Thomas Jefferson University, Philadelphia, PA 19107, USA.
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.
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