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MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME 2 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY 2 AND SEVERE INTRAUTERINE GROWTH RETARDATION

✍ Scribed by A. L. WEBB; S. STURGISS; P. WARWICKER; S. C. ROBSON; J. A. GOODSHIP; J. WOLSTENHOLME

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 464 KB
Volume: 16
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199610)16:10<958::aid-pd971>3.0.co;2-u

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✦ Synopsis

We report a liveborn infant with severe intrauterine growth retardation and renal failure, delivered following detection of non-mosaic trisomy 2 by chorionic villus biopsy in the first trimester. Detailed analysis post-delivery indicated apparent complete trisomy 2 of the chorionic tissues, with a chromosomally normal infant demonstrating maternal uniparental disomy for chromosome 2.

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