Case report: uniparental disomy 16 in association with congenital heart disease

Prenatal Diagnosis
S O'RiordanK H Nicolaides

Abstract

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.

References

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Citations

Jun 16, 2005·American Journal of Medical Genetics. Part a·Dieter Kotzot, Gerd Utermann
Jul 8, 2005·American Journal of Medical Genetics. Part a·Natalia V Kovaleva
Mar 25, 2006·Prenatal Diagnosis·Katherine NeiswangerUrvashi Surti
Apr 1, 2006·Cytogenetic and Genome Research·S Abu-AmeroG Moore
May 30, 2012·Congenital Anomalies·Kenji KurosawaMichiko Yamanaka
Jan 10, 1998·Trends in Genetics : TIG·L D Hurst, G T McVean

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