Literature DB >> 22715224

Primary amenorrhoea due to ovarian dysgenesis: a previously undescribed chromosome 12 abnormality.

Paul Grant1, David Lipscomb.   

Abstract

This case describes for the first time a de novo chromosomal abnormality (46, XX, inv dup del(12)(qter-p13.3::p13.3-p12.3:)dn.ish inv dup del(12)(TEL-ETV6++) which produced the phenotype of a female with primary ovarian failure and subsequent osteopenia in early adult life. This warranted treatment with oestrogen replacement therapy and close supportive monitoring.

Entities:  

Mesh：

Year:  2011        PMID： 22715224      PMCID： PMC3028458          DOI： 10.1136/bcr.07.2010.3201

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  7 in total

Review 1.  A case of trisomy 12 mosaicism with pituitary malformation and polycystic ovary syndrome.

Authors:  S Boulard; G Diene; R Barat; I Oliver; C Pienkowski; D Lacombe; M C Vincent; G Bourrouillou; M Tauber
Journal:  Genet Couns       Date:  2006

2.  How do you initiate oestrogen therapy in a girl who has not undergone puberty?

Authors:  Peter C Hindmarsh
Journal:  Clin Endocrinol (Oxf)       Date:  2009-02-18       Impact factor: 3.478

3.  Clinical features of young women with hypergonadotropic amenorrhea.

Authors:  R W Rebar; H V Connolly
Journal:  Fertil Steril       Date:  1990-05       Impact factor: 7.329

4.  Chromosome 12 abnormalities in malignant ovarian germ cell tumors.

Authors:  E Rodriguez; J Melamed; V Reuter; R S Chaganti
Journal:  Cancer Genet Cytogenet       Date:  1995-07-01

Review 5.  The genetic origins of ovarian failure.

Authors:  C A Bondy; L M Nelson; S N Kalantaridou
Journal:  J Womens Health       Date:  1998-12       Impact factor: 2.681

6.  Amenorrhea in gonadal dysgenesis, caused by chromosomal translocation.

Authors:  L Gedda; R Carrega; L Borgese; F Strollo
Journal:  Acta Genet Med Gemellol (Roma)       Date:  1995

7.  A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility.

Authors:  S Bione; C Sala; C Manzini; G Arrigo; O Zuffardi; S Banfi; G Borsani; P Jonveaux; C Philippe; M Zuccotti; A Ballabio; D Toniolo
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025
  7 in total

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