title: Interstitial deletion of the short arm of chromosome 2 in a mother and child, with facial dysmorphism and mild learning difficulties.
abstract: We report a mother and son with an interstitial deletion of chromosome 2: del(2)(p21p22.2). Both have mildly dysmorphic facial features and learning difficulties. This phenotype contrasts with two previously described cases with a similar deletion that presented with cyclopia and alobar holoprosencephaly.
authors.affiliation: Cheshire and Merseyside Medical Genetics Service, Department of Clinical Genetics, Royal Liverpool Children's Hospital, Alder Hey Cheshire and Merseyside Regional Molecular Genetics Laboratory, Liverpool Women's NHS Foundation Trust Merseyside and Cheshire Regional Genetics Laboratory, Liverpool Women's NHS Foundation Trust, Liverpool Community Child Health, Children's Centre, Southport Regional Cytogenetics Laboratory, Southmead Hospital, Bristol, UK.
authors.forename: Ruth
authors.initials: R
authors.lastname: Armstrong
authors.forename: Ian
authors.initials: I
authors.lastname: Ellis
authors.forename: Catherine
authors.initials: C
authors.lastname: Kightley
authors.forename: Vijay Dinanadh
authors.initials: VD
authors.lastname: Sethi
authors.forename: Emma
authors.initials: E
authors.lastname: McCarthy
authors.forename: Una
authors.initials: U
authors.lastname: Maye
authors.forename: Gillian
authors.initials: G
authors.lastname: White
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D016142:Holoprosencephaly / Q000235:genetics; D006801:Humans; D007859:Learning Disabilities / Q000235:genetics*; D008297:Male; D010641:Phenotype