Literature DB >> 11453532

47,XYY karyotype and normal SRY in a patient with a female phenotype.

S Benasayag1, M Rittler, F Nieto, N Torres de Aguirre, M Reyes, S Copelli.   

Abstract

A rare case of a female patient with a 47,XYY karyotype is described. She had normal female external genitalia, bilateral testes, rudimentary Fallopian tubes and no uterus. Molecular analysis revealed a normal SRY encoding sequence. The possible events in the etiology of this sex reversal entity are discussed.

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Year:  2001        PMID： 11453532     DOI： 10.1515/jpem.2001.14.6.797

Source DB:  PubMed          Journal:  J Pediatr Endocrinol Metab        ISSN： 0334-018X            Impact factor:   1.634


  3 in total

1.  Oral health management of a patient with 47,XYY syndrome.

Authors:  Altaf Hussain Shah; B S Manjunatha; Naif A Bindayel; Rita Khounganian
Journal:  BMJ Case Rep       Date:  2013-12-05

2.  Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.

Authors:  Kevin C Knower; Sabine Kelly; Louisa M Ludbrook; Stefan Bagheri-Fam; Helena Sim; Pascal Bernard; Ryohei Sekido; Robin Lovell-Badge; Vincent R Harley
Journal:  PLoS One       Date:  2011-03-11       Impact factor: 3.240

3.  Disorder of Sexual Development Males With XYY in Blood Have Exactly X/XY/XYY Mosaicism in Gonad Tissues.

Authors:  Yongjia Yang; Fang Chen; Zhenqing Luo; Yu Zheng; Jiayong Zheng; Yuyan Fu; Weijian Chen; Haiyan Luo
Journal:  Front Genet       Date:  2021-04-12       Impact factor: 4.599
  3 in total

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