Literature DB >> 7573136

Gonadal dysgenesis in del(18p) syndrome.

L Telvi1, A Bernheim, A Ion, F Fouquet, Y Le Bouc, J L Chaussain.   

Abstract

We report on a girl with syndromal gonadal dysgenesis and a de novo del(18p). Genetic factors controlling gonadal development are located not only on the X chromosome, but also on autosomes. The present case suggests that one of these genes is situated on 18p. We conclude that patients with del(18p) syndrome should be evaluated for gonadal dysgenesis.

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Year:  1995        PMID： 7573136     DOI： 10.1002/ajmg.1320570416

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  5 in total

Review 1.  Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature.

Authors:  Beate Schmidt; Floris Udink ten Cate; Michael Weiss; Udo Koehler
Journal:  Eur J Pediatr       Date:  2012-07       Impact factor: 3.183

2.  A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.

Authors:  A Ion; L Telvi; J L Chaussain; F Galacteros; J Valayer; M Fellous; K McElreavey
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

3.  A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.

Authors:  L Telvi; A Ion; J C Carel; I Desguerre; M Piraud; A M Boutin; J Feingold; G Ponsot; M Fellous; K McElreavey
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

4.  Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements.

Authors:  S W Horsley; S J Knight; J Nixon; S Huson; M Fitchett; R A Boone; D Hilton-Jones; J Flint; L Kearney
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

5.  Familial deletion 18p syndrome: case report.

Authors:  Bruno Maranda; Nicole Lemieux; Emmanuelle Lemyre
Journal:  BMC Med Genet       Date:  2006-07-14       Impact factor: 2.103
  5 in total

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