First confirmed case with paternal uniparental disomy of chromosome 16.
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.
Kohlhase
J
J
Institut für Humangenetik, Universität Göttingen, Göttingen, Germany. jkohlha@gwdg.de
Janssen
B
B
Weidenauer
K
K
Harms
K
K
Bartels
I
I
D000328:Adult; D000649:Amniocentesis; D002885:Chromosomes, Human, Pair 16; D005220:Fathers; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D009030:Mosaicism; D011247:Pregnancy; D014314:Trisomy / Q000175:diagnosis*