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Maternal uniparental heterodisomy for chromosome 2: Detection through 'atypical' maternal AFP/hCG levels, with an update on a previous case

Lookup NU author(s): Dr John Wolstenholme, Dr Stephen Sturgiss, Professor Judith Goodship

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Abstract

We report a case of maternal uniparental disomy 2, detected through routine screening of placental karyotypes following the finding of 'atypical' AFP/hCG levels in the second trimester, with intrauterine growth retardation (IUGR) but otherwise normal outcome at term. Although the child remained small, subsequent early physical and mental development has also been normal. Additionally, we report long-term follow-up of an earlier case, again with relatively normal physical and mental development. The significance of atypical AFP/hCG results and the predictive value of prenatal testing for UPD2 in trisomy 2 confined placental mosaicism (CPM) cases are discussed. Copyright © 2001 John Wiley & Sons, Ltd.

Publication metadata

Author(s): Goodship JA; Sturgiss S; Wolstenholme J; White I; Carter J; Plant N

Publication type: Article

Publication status: Published

Journal: Prenatal Diagnosis

Year: 2001

Volume: 21

Issue: 10

Pages: 813-817

ISSN (print): 0197-3851

ISSN (electronic): 1097-0223

Publisher: John Wiley & Sons

URL: http://dx.doi.org/10.1002/pd.143

DOI: 10.1002/pd.143

PubMed id: 11746120

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