Can I read CASE REPORT: UNIPARENTAL DISOMY 16 IN ASSOCIATION WITH CONGENITAL HEART DISEASE on EtoBox?

CASE REPORT: UNIPARENTAL DISOMY 16 IN ASSOCIATION WITH CONGENITAL HEART DISEASE by S. O'RIORDAN; A. GREENOUGH; G. E. MOORE; P. BENNETT; K. H. NICOLAIDES is a Medicine article available to read on EtoBox.

What is CASE REPORT: UNIPARENTAL DISOMY 16 IN ASSOCIATION WITH CONGENITAL HEART DISEASE about?

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.

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

Author

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

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley; Research Square (ISSN 0197-3851)

Published

1996

Language

EN

Field

Medicine (Health Sciences)