Chromosomal imbalance in the offspring of translocation carriers involving 7p. Further contribution with three cases to the partial trisomy 7p phenotype.
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.
Gabarrón
J
J
Instituto de Bioquímica Clínica, Ciudad Sanitaria V. de la Arrixaca, Murcia, Spain.
Glover
G
G
Jiménez
A
A
Salas
P
P
Pérez-Bryan
J
J
Parra
M J
MJ
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002897:Chromosomes, Human, Pair 7; D005260:Female; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy