Complex de novo rearrangement involving four chromosomes and ten break points with interstitial deletions and duplication.
We describe an unusual de novo case of two interstitial deletions (5q22----5q31; 9q13----9p22) and one duplication (9q22----9p34) resulting from a 10-breakpoint, complex chromosome rearrangement of chromosomes 1, 5, 8, and 9 in a profoundly retarded woman.
Muneer
R S
RS
Department of Pediatrics, Oklahoma Children's Hospital, Oklahoma City 73190.
Himes
J
J
Rennert
O M
OM
D000328:Adult; D002478:Cells, Cultured; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D005260:Female; D005347:Fibroblasts / Q000166:cytology; D006801:Humans; D007621:Karyotyping; D011596:Psychomotor Disorders / Q000235:genetics; D012867:Skin / Q000473:pathology