Literature DB >> 3359679

Chromosomal imbalance in the offspring of translocation carriers involving 7p. Further contribution with three cases to the partial trisomy 7p phenotype.

J Gabarrón1, G Glover, A Jiménez, P Salas, J Pérez-Bryan, M J Parra.   

Abstract

Five families with balanced translocations involving 7p are reported. Three girls from two of these families presented several congenital malformations and partial trisomy 7p. A comparison is made of their phenotype with other reported cases.

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Year:  1988        PMID： 3359679     DOI： 10.1111/j.1399-0004.1988.tb03439.x

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


  2 in total

1.  Partial trisomy and partial monosomy resulting from a reciprocal segregating in a large family.

Authors:  Gopalrao V N Velagaleti; Judy C Hawkins; Neli I Panova; Lillian H Lockhart
Journal:  Indian J Pediatr       Date:  2008-09       Impact factor: 1.967

2.  De novo 7p partial trisomy characterized by subtelomeric FISH and whole-genome array in a girl with mental retardation.

Authors:  Aswini S; Venkata O Padmalatha; Saranya G; Durgadatta T; Raseswari T; Kanakavalli M Kulashekaran; Meena J; Chandra N; Lalji S; Lakshmi R Kandukuri
Journal:  Mol Cytogenet       Date:  2011-10-03       Impact factor: 2.009
  2 in total

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