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CASE REPORT: UNIPARENTAL DISOMY 16 IN ASSOCIATION WITH CONGENITAL HEART DISEASE

✍ Scribed by S. O'RIORDAN; A. GREENOUGH; G. E. MOORE; P. BENNETT; K. H. NICOLAIDES

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
228 KB
Volume
16
Category
Article
ISSN
0197-3851

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✦ Synopsis

Uniparental disomy (UPD) is the inheritance of both copies of a given chromosome from the same parent (Warburton, 1988;Anon., 1991). The exact disease associations of UPD of individual chromosomes have yet to be fully elucidated and the question of whether UPD of some chromosomes may be regarded as a benign finding remains unanswered. We report an infant with uniparental maternal disomy 16, the only such infant identified at King's College Hospital. The infant had intrauterine growth retardation and minor congenital heart disease.

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