Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses.
نویسندگان
چکیده
F Vialard, C Ottolenghi, M Gonzales, A Choiset, S Girard, J P Siffroi, K McElreavey, C Vibert-Guigue, M Sebaoun, N Joyé, M F Portnoï, F Jaubert, M Fellous . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
منابع مشابه
LETTER TO JMG Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses
F Vialard, C Ottolenghi, M Gonzales, A Choiset, S Girard, J P Siffroi, K McElreavey, C Vibert-Guigue, M Sebaoun, N Joyé, M F Portnoï, F Jaubert, M Fellous . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...
متن کاملAssociation of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder.
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 somat...
متن کاملO-43: Mutations in NR5A1 Associated withOvarian Insufficiency
Background: The genetic causes of nonsyndromic ovarian insufficiency are largely unknown. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic–pituitary–steroidogenic axis. Mutation of NR5A1 causes 46,XY disorders of sex development, with or without adrenal failure, but growing experimental evidence from studies...
متن کامل9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.
Deletion of the distal segment of 9p causes a syndrome comprising trigonocephaly, minor anomalies, and intellectual disability. Patients with this condition also frequently present with genitourinary abnormalities including cryptorchidism, hypospadias, ambiguous genitalia, or 46,XY testicular dysgenesis. The region responsible for the gonadal dysgenesis has been localized to 9p24.3 with the lik...
متن کاملWide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals
Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex developmen...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 39 7 شماره
صفحات -
تاریخ انتشار 2002