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Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency

✍ Scribed by I Ceballos-Picot; G Guest; V Moriniere; L Mockel; M Daudon; V Malan; C Antignac; L Heidet

Book ID
110889224
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
675 KB
Volume
80
Category
Article
ISSN
0009-9163

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Maternal uniparental disomy of chromosom
Maternal uniparental disomy of chromosome 21 in a normal child
✍ Rogan, Peter K.; Sabol, Darrin W.; Punnett, Hope H. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 12 KB πŸ‘ 2 views

Maternal uniparental disomy of chromosome 21 [upd(21)mat] was found previously in a normal female and in 2 cases of early embryonic failure. We present a phenotypically normal child with upd(21)mat due to a de novo der(21;21)(q10;10). This finding suggests that chromosome 21 is not imprinted in the