J Med Genet 1999;36:633-636 ( August )

Short report

Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2) Rick A Martin^a, Darrin W Sabol^{* b}, Peter K Rogan^c

^a Department of Pediatrics, MCP Hahnemann School of Medicine, St Christopher's Hospital for Children, Philadelphia, PA, USA, ^b Department of Human Genetics, Allegheny General Hospital, Pittsburgh, PA, USA, ^c Section of Medical Genetics and Molecular Medicine, Children's Mercy Hospital, University of Missouri School of Medicine, 2401 Gillham Road, Kansas City, MO 64108, USA

Correspondence to: Dr Rogan.

Received 3 February 1999; Revised version accepted for publication 23 April 1999

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.


Keywords: maternal uniparental disomy; chromosome 14; imprinting

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^* Present address: Phylogenetix Laboratories Inc, 275 William Pitt Way, Pittsburgh, PA 15238, USA.

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© 1999 by J Med Genet
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