Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene

• Published in: Human genetics Vol. 102; no. 2; pp. 151 - 156
• Main Authors: ION, R, TELVI, L, CHAUSSAIN, J.-L, BARBET, J. P, NUNES, M, SAFAR, A, RETHORE, M.-O, FELLOUS, M, MCELREAVEY, K
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01-02-1998; Berlin; New York, NY
• Subjects: Adolescent; Biological and medical sciences; Blotting, Southern; Chromosome aberrations; Chromosome Breakage - genetics; Chromosomes, Human, Pair 9 - genetics; DNA Helicases; DNA-Binding Proteins - genetics; Follicle Stimulating Hormone - blood; Gonadal Dysgenesis - genetics; Gonadal Dysgenesis - pathology; Humans; Karyotyping; Luteinizing Hormone - blood; Male; Medical genetics; Medical sciences; Nuclear Proteins; Testis - abnormalities; Testis - pathology; Transcription Factors - genetics; Chromosomal aberration; Genetic mapping; Human; Breakpoint; Dysgenesia; Testicle; Genital diseases; Abnormal chromosome C9; Gene; Malformation; Sex determination; Sexual differentiation anomaly; Development; Abnormal chromosome
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/s004390050669

In 46,XY individuals, testes are determined by the activity of the SRY gene (sex-determining region Y), located on the short arm of the Y chromosome. The other genetic components of the cascade that leads to testis formation are unknown and may be located on the X chromosome or on the autosomes. Evidence for the existence of several loci associated with failure of male sexual development is indicated by reports of 46,XY gonadal dysgenesis associated with structural abnormalities of the X chromosome or of autosomes (chromosomes 9, 10, 11 and 17). In this report, we describe the investigation of a child presenting with multiple congenital abnormalities, mental retardation and partial testicular failure. The patient had a homogeneous de novo 46,XY,inv dup(9)(pter-->p24.1::p21.1-->p23.3::p24.1-->qter) chromosome complement. No deletion was found by either cytogenetic or molecular analysis. The SRY gene and DSS region showed no abnormalities. Southern blotting dosage analysis with 9p probes and fluorescent in situ hybridisation data indicated that the distal breakpoint of the duplicated fragment was located at 9p24.1, proximal to the SNF2 gene. We therefore suggest that a gene involved in normal testicular development and/or maintenance is present at this position on chromosome 9.