Literature DB >> 7241529

Familial chromosome translocation t(3;18)(p21;p11).

G Buchinger, A Wettstein, H Metze.   

Abstract

A familial translocation t(3;18)(p21;p11) was observed in a newborn male. He had multiple malformations resulting from partial trisomy 3 and partial monosomy 18. The mother, maternal uncle, and maternal grandmother were found to be balanced translocation carriers. A daughter of the maternal uncle with similar malformations probably had the same unbalanced karyotype as the proband.

Entities:  

Mesh:

Year:  1981        PMID: 7241529      PMCID: PMC1048683          DOI: 10.1136/jmg.18.2.119

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


  5 in total

1.  [Partial trisomy for the distal part of the short branch of chromosome 3].

Authors:  F Ballesta; L Vehi
Journal:  Ann Genet       Date:  1974-12

2.  An unusual chromosomal segregation in a family with a translocation between chromosomes 3 and 12.

Authors:  S Sachdeva; G F Smith; P Justice
Journal:  J Med Genet       Date:  1974-09       Impact factor: 6.318

3.  [Trisomy for the distal part of the short arm of the number 3 chromosome in 3 siblings. First example of chromosomal insertion: INS(7;3)(q 31;p 21 p 26)].

Authors:  M O Rethoré; J Lejeune; S Carpentier; M Prieur; B Dutrillaux; P Seringe; A Rossier; J C Job
Journal:  Ann Genet       Date:  1972-09

4.  46, XY, t(3;22) (p2;q13) resulting in partial trisomy for the short arm of chromosome 3.

Authors:  R B Surana; M E Braudo; P E Conen; R H Slade
Journal:  Clin Genet       Date:  1977-03       Impact factor: 4.438

5.  Familial de Lange syndrome with chromosome abnormalities.

Authors:  A Falek; R Schmidt; G A Jervis
Journal:  Pediatrics       Date:  1966-01       Impact factor: 7.124

  5 in total
  1 in total

1.  Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male.

Authors:  M Münke; D C Page; L G Brown; B A Armson; E H Zackai; M T Mennuti; B S Emanuel
Journal:  Hum Genet       Date:  1988-11       Impact factor: 4.132

  1 in total

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