期刊
INDIAN JOURNAL OF PEDIATRICS
卷 79, 期 6, 页码 806-809出版社
ALL INDIA INST MEDICAL SCIENCES
DOI: 10.1007/s12098-011-0567-x
关键词
Mosaic trisomy 9; Congenital heart disease; Pigmentary mosaic skin lesions
类别
资金
- Centre for DNA fingerprinting & Diagnostics, Hyderabad
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.
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