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First confirmed case with paternal uniparental disomy of chromosome 16

✍ Scribed by Kohlhase, J�rgen; Janssen, Bart; Weidenauer, Karin; Harms, Karsten; Bartels, Iris

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
12 KB
Volume
91
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(20000320)91:3<190::aid-ajmg6>3.0.co;2-i

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✦ Synopsis

The existence of paternal uniparental disomy of chromosome 16 [upd( 16)pat] has previously been suspected but has not been proven. We report prenatal detection and follow-up of isodisomic upd(16)pat in a child with minimal defects but otherwise normal development. Our results indicate that isodisomic upd(16)pat is associated with a normal outcome if no recessive mutation is reduced to homozygosity. Am.

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