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Association of terminal chromosome 1 deletion with Sertoli cell-only syndrome

✍ Scribed by Hathout, Eba H.; Thompson, Kevin; Baum, Marti; Dumars, Kenneth W.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 17 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981204)80:4<396::aid-ajmg17>3.0.co;2-#

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✦ Synopsis

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.

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