Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.
A newborn infant with clinical and pathological findings typical trisomy 13 and 22 syndromes had an extra chromosome which was a derivative chromosome from maternal balanced translocation affecting Nos. 13 and 22; 47,XY,+der(22),t(13:22)(q22:q12)Mat. The presence of extra specific euchromatic regions of No. 13(13q22 and/or 13q34) and No. 22 (22q11) seem to be responsible for the trisomy 13 and 22 syndromes.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002901:Chromosomes, Human, 13-15; D002904:Chromosomes, Human, 21-22 and Y; D006801:Humans; D007231:Infant, Newborn; D007962:Leukocytes / Q000648:ultrastructure; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy