Partial trisomy for the short arm of chromosome 2 due to familial balance translocation.
A partial trisomy for the short arm of chromosome 2 (p21 leads to pter) was observed in a severely retarded infant with facial, skeletal, genital, renal, and CNS anomalies. The phenotypically normal mother and older brother had a balanced translocation between the short arm of chromosome 2 and the long arm of chromosome 14: 46, XX-XY,t(2;14)(p21;q32).
D000015:Abnormalities, Multiple / Q000235:genetics*; D002900:Chromosomes, Human, 1-3; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy