Literature DB >> 8326498

Deletion 9p and sex reversal.

C P Bennett1, Z Docherty, S A Robb, P Ramani, J R Hawkins, D Grant.   

Abstract

We report a case of a female infant with a de novo deletion of the short arm of chromosome 9, sex reversal, and an apparently intact SRY gene. Sex reversal has been reported in a number of subjects with a normal Y chromosome and a deletion of the terminal segment of the short arm of chromosome 9. The factors controlling early development of the male testes are unknown. There are likely to be many genes involved and we present additional evidence that one of these is situated on the end of the short arm of chromosome 9.

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Year:  1993        PMID： 8326498      PMCID： PMC1016430          DOI： 10.1136/jmg.30.6.518

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  21 in total

1.  Double autosomal chromosomal aberration (3p trisomy/9p monosomy) and sex-reversal.

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Journal:  Ann Genet       Date:  1986

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Journal:  Clin Genet       Date:  1988-07       Impact factor: 4.438

Review 3.  Gonadoblastoma. A review of 74 cases.

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4.  XY gonadal dysgenesis: aberrant testicular differentiation in the presence of H-Y antigen.

Authors:  L Moltz; U Schwartz; H Pickartz; J Hammerstein; U Wolf
Journal:  Obstet Gynecol       Date:  1981-07       Impact factor: 7.661

5.  The dermatoglyphic and clinical features of the 9p trisomy and partial 9p monosomy syndromes.

Authors:  R S Young; T Reed; M E Hodes; C G Palmer
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

6.  H-Y antigen in 46,XY pure testicular dysgenesis.

Authors:  H R Nazareth; C A Moreira-Filho; A J Cunha; J P Vieira-Filho; A M Lengyel; M C Lima
Journal:  Am J Med Genet       Date:  1979

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8.  The persistent Müllerian duct syndrome: a molecular approach.

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Journal:  J Clin Endocrinol Metab       Date:  1989-01       Impact factor: 5.958

9.  Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.

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Journal:  Cell       Date:  1991-10-18       Impact factor: 41.582

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Authors:  F Sanger; S Nicklen; A R Coulson
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205
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  29 in total

1.  Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome.

Authors:  L A Christ; C A Crowe; M A Micale; J M Conroy; S Schwartz
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

2.  Wpkci, encoding an altered form of PKCI, is conserved widely on the avian W chromosome and expressed in early female embryos: implication of its role in female sex determination.

Authors:  T Hori; S Asakawa; Y Itoh; N Shimizu; S Mizuno
Journal:  Mol Biol Cell       Date:  2000-10       Impact factor: 4.138

3.  Impaired male sex development in an infant with molecularly defined partial 9p monosomy: implication for a testis forming gene(s) on 9p.

Authors:  T Ogata; K Muroya; N Matsuo; J Hata; Y Fukushima; Y Suzuki
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

4.  Evolutionary dynamics of the DM domain gene family in metazoans.

Authors:  Jean-Nicolas Volff; David Zarkower; Vivian J Bardwell; Manfred Schartl
Journal:  J Mol Evol       Date:  2003       Impact factor: 2.395

5.  Partial disomy of Xp and the presence of SRY in a phenotypic female.

Authors:  S Bajalica; E Blennow; A Tşezou; A Galla-Voumvouraki; M Alevizaki; C Sinaniotis; S Kitsiou-Tzeli
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

6.  A mild phenotype associated with der(9)t(3;9) (p25;p23).

Authors:  R J McClure; N Telford; S J Newell
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

Review 7.  An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family.

Authors:  S F Slaney; I J Chalmers; N A Affara; L S Chitty
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

8.  Molecular evolution of Dmrt1 accompanies change of sex-determining mechanisms in reptilia.

Authors:  Daniel E Janes; Christopher L Organ; Rami Stiglec; Denis O'Meally; Stephen D Sarre; Arthur Georges; Jennifer A M Graves; Nicole Valenzuela; Robert A Literman; Kim Rutherford; Neil Gemmell; John B Iverson; Jeffrey W Tamplin; Scott V Edwards; Tariq Ezaz
Journal:  Biol Lett       Date:  2014-12       Impact factor: 3.703

9.  Over-expression of DMRT1 induces the male pathway in embryonic chicken gonads.

Authors:  Luke S Lambeth; Christopher S Raymond; Kelly N Roeszler; Asato Kuroiwa; Tomohiro Nakata; David Zarkower; Craig A Smith
Journal:  Dev Biol       Date:  2014-02-24       Impact factor: 3.582

10.  Cytogenetic and molecular findings in patients with Turner's syndrome stigmata.

Authors:  T Kuznetzova; A Baranov; N Schwed; T Ivaschenko; P Malet; M Giollant; G A Savitsky; V Baranov
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318
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