De-novo duplication of 5(q13.3q21.1) in a child with vitreo-retinal dysplasia and learning disability

Clin Dysmorphol. 2010 Apr;19(2):73-75. doi: 10.1097/MCD.0b013e328331a6d7.

Authors

Siddharth Banka¹, I Chris Lloyd, Graeme Black, Stephen Trueman, John Gibbs, Jill Clayton-Smith

Affiliation

¹ Academic Unit of Medical Genetics Regional Cytogenetics, St. Mary's Hospital Manchester Royal Eye Hospital, Manchester Department of Paediatrics, Countess of Chester Hospital, Chester, UK.

PMID: 20177379
DOI: 10.1097/MCD.0b013e328331a6d7

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Child
Chromosome Aberrations*
Chromosomes, Human, Pair 5 / genetics*
Female
Gene Duplication*
Humans
Infant
Infant, Newborn
Learning Disabilities / complications*
Male
Pregnancy
Retinal Dysplasia / complications*
Retinal Dysplasia / diagnostic imaging
Ultrasonography
Vitreous Body / abnormalities*
Vitreous Body / diagnostic imaging