Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations

• Published in: American journal of medical genetics. Part A Vol. 138A; no. 2; pp. 150 - 154
• Main Authors: Hahnemann, Johanne M.D., Nir, Marta, Friberg, M., Engel, Ulla, Bugge, Merete
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.10.2005
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Chromosomes, Human, Pair 10 - genetics; Fatal Outcome; Genotype; Growth Disorders - pathology; Humans; Infant; Karyotyping; Male; maternal uniparental heterodisomy 10; Microsatellite Repeats; Mosaicism; parental origin; phenotype; Trisomy; trisomy 10 mosaicism; Uniparental Disomy

We report on a liveborn infant with trisomy 10 mosaicism combined with maternal uniparental heterodisomy for chromosome 10. The mosaicism 47,XY,+10/46,XY was found in five different tissues, including one blood sample, while cultured lymphocytes from two other blood samples showed a normal karyotype...