t(1;18)(q32.1;q22.1) associated with genitourinary malformations.
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.
Frizell
E R
ER
Department of Biochemistry and Molecular Pharmacology, Thomas Jefferson University, Philadelphia, PA 19107, USA.
Sutphen
R
R
Diamond
F B
FB
Sherwood
M
M
Overhauser
J
J
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