[A new observation of trisomy 11q due to t(11,22)(q23.1; q11.1) mat (author's transl)].
Trisomy 11q in a 13-month-old patient with severe mental deficiency, generalized dysmorphia, and a cardiac anomaly represents a previously unrecognized form of malsegregation of the frequently observed translocation t(11;22)(q23.1;q11.1).
D002869:Chromosome Aberrations; D002904:Chromosomes, Human, 21-22 and Y; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy
A propos d'une nouvelle observation de trisomie 11q secondaire a une translocation maternelle t(11;22)(q23.1;q11.1).