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Uniparental disomy in congenital disorders: A prospective study

✍ Scribed by Lindor, Noralane M. ;Karnes, Pamela S. ;Michels, Virginia V. ;Dewald, Gordon W. ;Goerss, Jean ;Jalal, Syed ;Jenkins, Robert B. ;Vockley, Gerard ;Thibodeau, Stephen N.

Book ID
102701580
Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
521 KB
Volume
58
Category
Article
ISSN
0148-7299

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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

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In most reported cases of uniparental disomy (UPD) associated with confined placental mosaicism (CPM), a high level of mosaicism or a full trisomy was found in chorionic villi. At the time that we started our investigations, it was not quite clear whether fetal UPD also existed in the more frequentl