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Mol. Hum. Reprod. Advance Access originally published online on July 20, 2007
Molecular Human Reproduction 2007 13(9):685-689; doi:10.1093/molehr/gam045
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© The Author 2007. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder

G. Vinci1, S. Chantot-Bastaraud1,2, B. El Houate1,3, S. Lortat-Jacob4, R. Brauner5 and K. McElreavey1,6

1Reproduction, Fertility and Populations, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France 2 Service d'Histologie-Biologie de la Reproduction-Cytogénétique, EA1533 Hôpital Tenon AP-HP, Paris, France 3Human Genetics Unit, Institut Pasteur of Morocco, Casablanca, Morocco 4Department of Pediatric Surgery, Hopital des Enfants-Malades, Paris, France 5Pediatric Endocrinology Unit, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris et Universitié René Decartes, 94275 Paris, France

6 Correspondence address. Reproduction, Fertility and Populations Unit, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France. Tel: +33 1 4568 8920; Fax: +33 1 4568 8639; E-mail: kenmce{at}pasteur.fr

Deletions of distal chromosome 9p24 are often associated with 46,XY gonadal dysgenesis and, depending on the extent of the deletion, the monosomy 9p syndrome. We have previously noted that some cases of 46,XY gonadal dysgenesis carry a 9p deletion and exhibit behavioural problems consistent with autistic spectrum disorder. These cases had a small terminal deletion of 9p with limited or no somatic anomalies that are characteristic of the monosomy 9p syndrome. Here, we present a new case of 46,XY partial gonadal dysgenesis and autistic spectrum disorder associated with a de novo deletion of 9p24 that was detected by ultra-high resolution oligo microarray comparative genomic hybridization. The deletion included the candidate sex-determining genes in the region DMRT1 and DMRT3. These data suggest that a gene responsible for autistic spectrum disorder is located within 9p24. It remains to be determined if the gonadal dysgenesis and autistic spectrum disorder are caused by a single gene or if they are caused by distinct genetic entities at 9p24.

Key words: autistic spectrum disorder/gonadal dysgenesis/chromosome 9p deletion/sex determination/ultra-high resolution oligo microarray comparative genomic hybridization

Submitted on June 29, 2006; resubmitted on May 17, 2007; accepted on May 21, 2007.


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