Association of terminal chromosome 1 deletion with sertoli cell-only syndrome.
We report on del(1)(q44), developmental delay, cryptorchidism, and seizure disorder in a 19-year-old man. Endocrinologic evaluation showed delayed puberty and elevated gonadotropins. Testicular biopsy was consistent with Sertoli cell-only syndrome. The case illustrates a previously an unreported manifestation in males with del(1)(q44), and suggests a link between the development of germinal epithelium and genes in the 1q44 area.
Hathout
E H
EH
Division of Pediatrics, Loma Linda University School of Medicine, California 92354, USA.
Thompson
K
K
Baum
M
M
Dumars
K W
KW
D000328:Adult; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D012708:Sertoli Cells / Q000473:pathology*; D013577:Syndrome