Complex chromosomal rearrangement involving chromosomes 11, 13, 14 and 18 resulting in monosomy for 13q32----qter.
A five-year-old boy with speech delay, minor facial abnormalities and borderline psychomotor retardation was found to have a complex de novo double translocation involving four chromosomes resulting in monosomy for the segment 13q32----qter. Chromosomes involved were 11, 13, 14, and 18. The translocation between chromosome 11 and 13 was unbalanced with the loss of the segment 13q32----qter. The second translocation between 14 and 18 was apparently balanced.
D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D002902:Chromosomes, Human, 16-18; D002906:Chromosomes, Human, 6-12 and X; D005147:Facial Bones / Q000002:abnormalities; D006801:Humans; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D011596:Psychomotor Disorders / Q000235:genetics; D012886:Skull / Q000002:abnormalities; D013064:Speech Disorders / Q000235:genetics; D014178:Translocation, Genetic