Literature DB >> 1028442

[Cytogenetic study of a recent case of trisomy 12p].

M J André.   

Abstract

A case of trisomy for the short arm and a part of the long arm of chromosome 12 is reported. Before the pregnancy sterility was noted during several years. Birth weight was normal; the newborn with multiple congenital defects died before the 4th day. Her mother, grandmother, and two brothers of the latter showed a balanced translocation t (5 ; 12) (p15 ; q132). The affected child inherited the derived 12 as a 47th chromosome.

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Year:  1976        PMID: 1028442

Source DB:  PubMed          Journal:  Bull Assoc Anat (Nancy)        ISSN: 0376-6160


  2 in total

1.  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

2.  New chromosomal dysmorphic syndromes. 4. Trisomy 12p.

Authors:  S Stengel-Rutkowski; A Albert; J D Murken; K Zahn-Messow; A Rodewald; M Zankl; H Saule; J Stene
Journal:  Eur J Pediatr       Date:  1981-07       Impact factor: 3.183

  2 in total

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