De-novo duplication of 5(q13.3q21.1) in a child with vitreo-retinal dysplasia and learning disability.
Banka
Siddharth
S
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.
Lloyd
I Chris
IC
Black
Graeme
G
Trueman
Stephen
S
Gibbs
John
J
Clayton-Smith
Jill
J
D002648:Child; D002869:Chromosome Aberrations; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007859:Learning Disabilities / Q000150:complications*; D008297:Male; D011247:Pregnancy; D015792:Retinal Dysplasia / Q000150:complications* / Q000000981:diagnostic imaging; D014463:Ultrasonography; D014822:Vitreous Body / Q000002:abnormalities* / Q000000981:diagnostic imaging