4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.
We report a 4.5 Mb deletion of 2q33.1 in an individual with developmental delay and cleft palate. There have been various previous reports of deletions of 2q3, all with varying breakpoints and all larger than the current case. Whilst there is some variation in the phenotypes of patients with 2q3 deletions all share a commonly deleted region within 2q33.1 which includes SATB2, a gene previously shown to be associated with cleft palate. The phenotypic features of our patient are milder than those reported so far.
Urquhart
Jill
J
Genetic Medicine, University of Manchester, Manchester Academic Heath Science Centre, Central Manchester University Hospital, NHS Foundation Trust, Oxford Road, Manchester, M13 9WL, UK. jill.urquhart@cmft.nhs.uk
Black
Graeme C M
GC
Clayton-Smith
Jill
J
D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007859:Learning Disabilities / Q000235:genetics*; D016133:Polymerase Chain Reaction