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[Partial monosomy and trisomy 5 p due to balanced translocation t (3,5) in the father (author's transl)].

Milly Andrle, A. Erlach, A Rett

Abstract

A family with three retarded children is described. The phenotypical features of the eldest girl are uncharacteristic, whereas both other girls show the typical symptoms of the Cri-du-chat syndrome. Cytogenetic examination showed a balanced translocation t (3,5) in the father and partial trisomy 5 p and monosomy 5 p in the two surviving daughters.

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Available abstract

Key concepts: Chromosomal translocation, Monosomy, Partial Trisomy, Medicine, Trisomy, Girl, Genetics, Pediatrics