Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2).
Maternal uniparental disomy for the complete long arm of chromosome 14 has been reported in 14 patients to date and is associated with a specific pattern of malformation. We report a child with clinical features of this syndrome who exhibits maternal uniparental disomy confined to a specific interstitial segment of chromosome 14.
Martin
R A
RA
Department of Pediatrics, MCP Hahnemann School of Medicine, St Christopher's Hospital for Children, Philadelphia, PA, USA.
Sabol
D W
DW
Rogan
P K
PK
D000782:Aneuploidy; D002675:Child, Preschool; D002883:Chromosomes, Human, Pair 14; D005260:Female; D008040:Genetic Linkage; D018392:Genomic Imprinting; D006801:Humans