t(1;18)(q32.1;q22.1) associated with genitourinary malformations |
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| Authors: | Edward R Frizell Rebecca Sutphen Frank B Diamond Jr Margaret Sherwood Joan Overhauser |
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| Affiliation: | Department of Biochemistry and Molecular Pharmacology,;/number>Division of Medical Genetics, Department of Medicine, Thomas Jefferson University, Philadelphia, PA,;/number>Children's Hospital, St. Petersburg, FL,;/number>Department of Pediatrics, University of South Florida, Tampa, FL, USA |
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| 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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| Keywords: | balanced translocation chromosome 18 fluorescent in situ hybridization genitourinary malformation 18q- syndrome |
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