[Partial monosomy and trisomy 5 p due to balanced translocation t (3,5) in the father (author's transl)].
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.
D000328:Adult; D002874:Chromosome Mapping; D002905:Chromosomes, Human, 4-5; D003410:Cri-du-Chat Syndrome / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy
Partielle Monosomie und Trisomie 5 p als Folge einer balancierten väterlichen Translokation t (3,5).