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[Phenotype signs at different ages in partial trisomy 3p by familial translocation 3/5].

Gesa Schwanitz, Klaus Zerres

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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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What this paper is about

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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Available 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.

Key concepts: Chromosomal translocation, Partial Trisomy, Biology, Phenotype, Trisomy, Genetics, Genetic counseling, Chromosome

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[Phenotype signs at different ages in partial trisomy 3p by familial translocation 3/5]. — Research Paper | ScholarLens