Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene |
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Authors: | Ruxandra Ion L Telvi Jean-Louis Chaussain Jacques Patrick Barbet Manoel Nunes Anne Safar Marie-Odile Réthoré Marc Fellous Ken McElreavey |
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Institution: | Laboratoire de Cytogénétique Constitutionnelle, H?pital St. Vincent de Paul, 82 Avenue Denfert Rochereau, F-75014 Paris, France Tel.: +33-1-40-488251, Fax: +33-1-40-488347, VC Service d’Endocrinologie, H?pital St. Vincent de Paul, Paris, France, VC Laboratoire de Pathologie Pédiatrique, H?pital St. Vincent de Paul, Paris, France, VC Immunogénétique Humaine, Institut Pasteur, Paris, France, FR Institut de Progénèse, Faculté de Médecine, Paris, France, FR
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Abstract: | 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 Ychromosome. The other genetic components of the cascade
that leads to testis formation are unknown and may be located on the Xchromosome 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 Xchromosome or of autosomes (chromosomes9, 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.
Received: 20 January 1997 / Accepted: 5 November 1997 |
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