Duplication 10q confirmed by DNA in situ hybridization.
Partial duplication of 10q is a recognizable clinical entity. In most of the reported cases, the trisomic segment is identified by a balanced translocation state in a parent. Verification remains a problem in de novo cases. However, the recent availability of whole chromosome probes allows for confirmatory diagnosis of suspected cases. We describe a case of de novo duplication (10q) with verification using DNA in situ hybridization.
Johnson
V P
VP
Department of Obstetrics and Gynecology, University of South Dakota School of Medicine, Vermillion.
Sutliff
W C
WC
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002879:Chromosomes, Human, Pair 10 / Q000648:ultrastructure*; D015342:DNA Probes; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D006801:Humans; D017403:In Situ Hybridization; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D005810:Multigene Family; D010641:Phenotype
D015342:DNA Probes