Literature DB >> 6716415

Trisomy 5p: a second case occurring in a previously described kindred.

M Vowles, A McDermott, I Janota.   

Abstract

A second child with trisomy 5p has been born in the kindred reported by Brimble-combe et al. The cytogenetic findings were similar to those of the index case except that the derivation was paternal instead of maternal. Improved banding techniques enabled more accurate designation of the breakpoints. The clinical and necropsy findings are described. Three non-specific phenotypic malformations and one brain abnormality, possibly specific, were common to both.

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Year:  1984        PMID: 6716415      PMCID: PMC1049246          DOI: 10.1136/jmg.21.2.144

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


  4 in total

1.  A partial trisomy 5p syndrome.

Authors:  J M Opitz; K Patau
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  Trisomy 5: delineation of clinical features.

Authors:  J H DiLiberti; R McKean; M J Webb; G Williams
Journal:  Birth Defects Orig Artic Ser       Date:  1977

3.  'Complete 5p' trisomy: 1 case and 19 translocation carriers in 6 generations.

Authors:  F S Brimblecombe; F J Lewis; M Vowles
Journal:  J Med Genet       Date:  1977-08       Impact factor: 6.318

4.  Clinical assessment of gestational age in the newborn infant.

Authors:  L M Dubowitz; V Dubowitz; C Goldberg
Journal:  J Pediatr       Date:  1970-07       Impact factor: 4.406

  4 in total
  1 in total

1.  Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation.

Authors:  Acácia Fernandes Lacerda de Carvalho; Fernanda Teixeira da Silva Bellucco; Leslie Domenici Kulikowski; Maria Betânia Pereira Toralles; Maria Isabel Melaragno
Journal:  Hum Genet       Date:  2008-09-07       Impact factor: 4.132

  1 in total

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