[Partial trisomy for the distal part of the short arm of chromosome 11 due to paternal translocations 11/5].
A girl with partial trisomy for the short arm of chromosome 11 resulting from an unbalanced translocation 46,XX,der 5, t(5,11) (p 15,p14) pat is described. The clinical findings are compared with those of other patients with partial trisomy 11p. The translocation in the balanced form was present in the fater, the brother, and the grandmother of the proposita.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002905:Chromosomes, Human, 4-5; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D014178:Translocation, Genetic; D014314:Trisomy
Trisomie partielle pour la partie distale du bras court d'un chromosome 11 par translocation 11/5 paternelle.