Association of terminal chromosome 1 deletion with sertoli cell-only syndrome.

Abstract

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.

• Authors: E H Hathout, K Thompson, M Baum, K W Dumars
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 80 Issue 4 Pg. 396-8 (Dec 04 1998) ISSN: 0148-7299 [Print] United States
• PMID: 9856570 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Chromosome Deletion
• Chromosomes, Human, Pair 1 (genetics)
• Developmental Disabilities (genetics, pathology)
• Humans
• Male
• Sertoli Cells (pathology)
• Syndrome