[Phenotype signs at different ages in partial trisomy 3p by familial translocation 3/5].
Gesa Schwanitz, Klaus Zerres
Abstract
Gesa Schwanitz, Klaus Zerres
Abstract
A family is described with a translocation 3/5 in three generations. Four patients showed the typical symptoms of partial trisomy 3p; for 2 of them a chromosome analysis was possible. Different main symptoms could be demonstrated for the different age-groups. The difficulties in analysing familial translocations and the problems in genetic counseling are discussed.
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A family is described with a translocation 3/5 in three generations. Four patients showed the typical symptoms of partial trisomy 3p; for 2 of them a chromosome analysis was possible. Different main symptoms could be demonstrated for the different age-groups. The difficulties in analysing familial translocations and the problems in genetic counseling are discussed.
Key concepts: Chromosomal translocation, Partial Trisomy, Biology, Phenotype, Trisomy, Genetics, Genetic counseling, Chromosome