Literature DB >> 469903

Trisomy 20p from maternal t(3;20) translocation.

N Archidiacono, D Tecilazich, G Tonini, M Rocchi, G Filippi.   

Abstract

A case of trisomy 20p resulting from a maternal translocation t(3;20) is described. QM and BUdR banding techniques were used for its identification. A round face with oblique palpebral fissures, strabismus, cardiac and vertebral abnormalities, mild psychomotor retardation, together with poor coordination and speech impediment, are the most typical features of the proband.

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Year:  1979        PMID: 469903      PMCID: PMC1012699          DOI: 10.1136/jmg.16.3.229

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


  3 in total

1.  Nonrandom distribution of chromosome breaks in cultured lymphocytes of normal subjects.

Authors:  S Aymé; J F Mattei; M G Mattei; Y Aurran; F Giraud
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132

2.  Familial trisomy 20p five cases and two carriers in three generations a review.

Authors:  W Centerwall; U Francke
Journal:  Ann Genet       Date:  1977-06

3.  [Staining of human chromosomes with acridine orange after treatment with 5 bromodeoxyuridine].

Authors:  B Dutrillaux; C Laurent; J Couturier; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1973-06-13
  3 in total

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