LETTER TO JMG

Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses

F Vialard¹, C Ottolenghi^2,3, M Gonzales¹, A Choiset⁴, S Girard⁴, J P Siffroi⁵, K McElreavey^2,6, C Vibert-Guigue⁷, M Sebaoun⁷, N Joyé¹, M F Portnoï¹, F Jaubert⁸, M Fellous²

¹ Service de Cytogénétique et de Foetopathologie, Hopital Saint Antoine, 184 rue du Faubourg Saint Antoine, 75012 Paris, France
² INSERM E0021, Institut Pasteur, 25 rue du Dr Roux 75724, Paris cedex 15, France
³ Department of Morphology and Embryology, University of Ferrara, 44100 Ferrara, Italy
⁴ Laboratoire de Cytogénétique, Hopital Saint Vincent de Paul, 75014 Paris, France
⁵ Laboratoire de Cytogénétique, Hopital Tenon, 75020 Paris, France
⁶ Reproduction, Fertility and Populations, Department of Developmental Biology, Institut Pasteur, 75724 Paris Cedex 05, France
⁷ Maternité, Hopital Sud Francilien, 91000 Evry, France
⁸ Service d'Anatomie et de Cytologie Pathologiques, Hopital Necker Enfants-Malades, 75743 Paris Cedex 15, France

Correspondence to:
Correspondence to:
Dr C Ottolenghi, INSERM E0021, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France;
chrisott@pasteur.fr

Keywords: deletion 9p; gonadal dysfunction; DMRT1

The first 150 words of the full text of this article appear below.

A locus on distal 9p has been reported to be deleted in patients with mental retardation, craniofacial dysmorphic traits, notably trigonocephaly, and a high frequency of genital and/or gonadal anomalies (Alfi's syndrome).¹ More recently, some cases of 46,XY male to female sex reversal without dysmorphic traits have been described in association with distal deletions of 9p.^2–5 46,XY patients described so far have had gonadal anomalies ranging from streak gonads, to partially masculinised dysgenetic gonads, to normal testes. A family of genes containing a unique zinc finger DNA binding domain, which has been called DM, as it is contained in two proteins involved in invertebrate sex determination, doublesex and mab-3, has recently been recognised. Three genes belonging to this family have been identified on 9p24.3, immediately proximal to the centromeric boundary of the minimal region, which is required in two copies for testis development.⁵ The first gene identified was termed DMRT1 . . . [Full text of this article]

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This article has been cited by other articles:

• Vinci, G., Chantot-Bastaraud, S., El Houate, B., Lortat-Jacob, S., Brauner, R., McElreavey, K. (2007). Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder. Mol Hum Reprod 13: 685-689 [Abstract] [Full Text]