[Partial 11q trisomy due to missegregation of maternal t(11;22) (q23;q11.1) translocation (author's transl)].
In a 4-month-old female infant with multiple congenital abnormalities karyotyping revealed a 47,XX, + der (22), t (11;22) (q23.1;q11.1) mat pattern, resulting from a maternal translocation, which was also found in other members of the mother's family. The phenotype was consistent with the physical abnormalities described in previously reported cases of partial 11 q trisomy. The apparently high incidence of this type of translocation is surprising.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002904:Chromosomes, Human, 21-22 and Y; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007223:Infant; D014178:Translocation, Genetic; D014314:Trisomy
Trisomie partielle 11 q par malségrégation d'une translocation maternelle t (11;22) (q23;q11.1).