title: Mosaic trisomy 9 presenting with congenital heart disease, facial dysmorphism and pigmentary skin lesions: intricate issues of genetic counseling.
abstract: 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: Department of Clinical Genetics, Centre for Molecular and Metabolic Diagnostics & Research Narayana Hrudayalaya Institute of Medical Sciences, Narayana Hrudayalaya Health City, No 258/A, Bommasandra Industrial Area, Anekal Taluq, Bangalore 560099, India. drsjpatil@gmail.com
authors: Siddram J
authors: SJ
authors: Patil
authors: Rajitha
authors: R
authors: Ponnala
authors: Sejal
authors: S
authors: Shah
authors: Ashwin
authors: A
authors: Dalal
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002899:Chromosomes, Human, Pair 9; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006801:Humans; D017495:Hyperpigmentation / Q000175:diagnosis*; D007223:Infant; D009030:Mosaicism; D014314:Trisomy / Q000175:diagnosis*; D024182:Uniparental Disomy / Q000175:diagnosis*