Journal
INDIAN JOURNAL OF PEDIATRICS
Volume 79, Issue 6, Pages 806-809Publisher
ALL INDIA INST MEDICAL SCIENCES
DOI: 10.1007/s12098-011-0567-x
Keywords
Mosaic trisomy 9; Congenital heart disease; Pigmentary mosaic skin lesions
Categories
Funding
- Centre for DNA fingerprinting & Diagnostics, Hyderabad
Ask authors/readers for more resources
Chromosomal mosaicism for full aneuploidy involving chromosome 9 is an uncommon chromosomal abnormality. Mosaic trisomy 9 clinical manifestations are highly variable and difficult to predict. The authors present a case of mosaic trisomy 9 with typical clinical manifestations (facial dysmorphism, various internal organ malformations and severe psychomotor retardation), pigmentary mosaic skin lesions along the lines of Blaschko and evidence of maternal uniparental disomy in skin.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available