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01-06-2012 | Clinical Brief

Mosaic Trisomy 9 Presenting with Congenital Heart Disease, Facial Dysmorphism and Pigmentary Skin Lesions: Intricate Issues of Genetic Counseling

Authors: Siddram J. Patil, Rajitha Ponnala, Sejal Shah, Ashwin Dalal

Published in: Indian Journal of Pediatrics | Issue 6/2012

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.

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Title: Mosaic Trisomy 9 Presenting with Congenital Heart Disease, Facial Dysmorphism and Pigmentary Skin Lesions: Intricate Issues of Genetic Counseling
Authors: Siddram J. Patil
Rajitha Ponnala
Sejal Shah
Ashwin Dalal
Publication date: 01-06-2012
Publisher: Springer-Verlag
Published in: Indian Journal of Pediatrics / Issue 6/2012
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI: https://doi.org/10.1007/s12098-011-0567-x

At a glance: The STEP trials

Springer Medicine

Mosaic Trisomy 9 Presenting with Congenital Heart Disease, Facial Dysmorphism and Pigmentary Skin Lesions: Intricate Issues of Genetic Counseling

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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