[Partial trisomy 11q and familial translocation 11--22 (author's transl)].
By heat denaturation, a reciprocal translocation was found in the mother of two malformed sibs. In her 46,XX,t(11 ;22)(q23 ;q11) caryotype, the rearranged elements exhibit no change of length. The 2 sibs are trisomic for the distal part of the long arm of chromosome 11.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002904:Chromosomes, Human, 21-22 and Y; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy
Trisomie partielle 11q et translocation familiale 11--22