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

J Gabarrón; G Glover; A Jiménez; P Salas; J Pérez-Bryan; M J Parra

doi:10.1111/j.1399-0004.1988.tb03439.x

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

Clin Genet. 1988 Mar;33(3):211-9. doi: 10.1111/j.1399-0004.1988.tb03439.x.

Authors

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

Affiliation

¹ Instituto de Bioquímica Clínica, Ciudad Sanitaria V. de la Arrixaca, Murcia, Spain.

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

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Chromosome Banding
Chromosomes, Human, Pair 7*
Female
Genetic Variation
Heterozygote
Humans
Infant, Newborn
Pedigree
Phenotype
Syndrome
Translocation, Genetic*
Trisomy*