First confirmed case with paternal uniparental disomy of chromosome 16

Authors
Kohlhase, J Janssen, P Weidenauer, K Harms, K Bartels, I
Citation
J. Kohlhase et al., First confirmed case with paternal uniparental disomy of chromosome 16, AM J MED G, 91(3), 2000, pp. 190-191
Citations number
9
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
91
Issue
3
Year of publication
2000
Pages
190 - 191
Database
ISI
SICI code
0148-7299(20000320)91:3<190:FCCWPU>2.0.ZU;2-#
Abstract
The existence of paternal uniparental disomy of chromosome 16 [upd(16)pat] has previously been suspected but has not been proven. We report prenatal d etection and follow-up of isodisomic upd(16)pat in a child with minimal def ects 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. (C) 2000 Wiley-Liss, Inc.