title: t(1;18)(q32.1;q22.1) associated with genitourinary malformations.
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.
authors.affiliation: Department of Biochemistry and Molecular Pharmacology, Thomas Jefferson University, Philadelphia, PA 19107, USA.
authors.forename: E R
authors.initials: ER
authors.lastname: Frizell
authors.forename: R
authors.initials: R
authors.lastname: Sutphen
authors.forename: F B
authors.initials: FB
authors.lastname: Diamond
authors.forename: M
authors.initials: M
authors.lastname: Sherwood
authors.forename: J
authors.initials: J
authors.lastname: Overhauser
mesh_terms: D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic; D014564:Urogenital Abnormalities / Q000235:genetics* / Q000473:pathology