Duplication of the distal part of the long arm of chromosome 1.
A case of dup(1)(q42----qter) is reported. A literature review of duplication of the distal third of chromosome 1 with breakpoints at various sites, 1q23, 1q25, 1q32, and 1q42, was undertaken. Clinical similarities and differences based on the size of the duplicated segment and other associated deficiencies are summarized.
Johnson
V P
VP
Department of OB/GYN, School of Medicine, University of South Dakota, Vermillion 57069.
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D014314:Trisomy