Duplication of 16p from insertion of 16p into 16q with subsequent duplication due to crossing over within the inserted segment.
Two members of a large family had a similar multiple congenital anomalies mental retardation (MCA/MR) syndrome and an identical aberration of chromosome 16. Their mothers, who are first cousins, had a different abnormality of one chromosome 16, which appeared to be an acrocentric. We interpret these findings as an insertion of a segment of 16p into 16q. following a three-break rearrangement and meiotic crossing over. The two abnormal children have a duplication of 16p11 leads to p13. The clinical manifestations of these patients differ from those of previously reported cases of dup(16p).
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002902:Chromosomes, Human, 16-18; D003434:Crossing Over, Genetic; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008540:Meiosis; D010375:Pedigree