Literature DB >> 477011

Partial trisomy 12q associated with a familial translocation.

L Hemming, R Brown.   

Abstract

A case is described of a female infant, who was trisomic for the terminal bands of the long arm of chromosome 12. Congenital abnormalities were present. Cytogenetic analysis on the proband's parents revealed the father to have a rare, simple translocation involving chromosomes 12 and 18.

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Mesh：

Year:  1979        PMID： 477011     DOI： 10.1111/j.1399-0004.1979.tb00844.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  6 in total

1.  Partial trisomy 12q24.31----qter.

Authors:  E H Tajara; M Varella-Garcia; A C Gusson
Journal:  J Med Genet       Date:  1985-02       Impact factor: 6.318

2.  Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q.

Authors:  N R Pratt; D T Bulugahapitiya
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318

3.  Partial trisomy 12q: report of a case and review.

Authors:  S H Roberts; T Mattina; K M Laurence; G Sorge; L Pavone
Journal:  J Med Genet       Date:  1981-12       Impact factor: 6.318

4.  Partial trisomy 12q.

Authors:  B Zabel; W Baumann
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318

5.  Translocations involving chromosome 12. I. A report of a 12,21 translocation in a woman with recurrent abortions, and a study of the breakpoints and modes of ascertainment of translocations involving chromosome 12.

Authors:  J H Ford; R H Rofe; R P Pavy
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

Review 6.  Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant.

Authors:  J W Dixon; T Costa; I E Teshima
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318
  6 in total

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