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 man...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 80; no. 4; p. 396
Main Authors Hathout, E H, Thompson, K, Baum, M, Dumars, K W
Format Journal Article
LanguageEnglish
Published United States 04.12.1998
Subjects
Adult
Chromosome Deletion
Chromosomes, Human, Pair 1 - genetics
Developmental Disabilities - genetics
Developmental Disabilities - pathology
Humans
Male
Sertoli Cells - pathology
Syndrome
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Summary: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.
ISSN:0148-7299
DOI:10.1002/(SICI)1096-8628(19981204)80:4<396::AID-AJMG17>3.0.CO;2-#