title: Two children with subtelomeric 11q deletions: a description and interpretation of their clinical presentations and molecular genetic findings.
abstract: The phenotypes associated with subtle deletions of the subtelomeric regions of many chromosomes have been reported. This is a detailed description of the clinical characteristics of two children with subtelomeric deletions of the long arm of chromosome 11 that were not apparent on the initial karyotype. We compare and contrast these with the clinical characteristics of a patient with a cytogenetically visible terminal 11q deletion, who shares similar craniofacial characteristics. All three suffered from moderate learning disability. Subtelomeric 11q deletions can be associated with mild-to-moderate learning difficulties and specific facial features, namely hypertelorism, down-slanting palpebral fissures and ptosis.
authors.affiliation: Division of Human Genetics Department of Paediatric Cardiology, Southampton General Hospital Wessex Clinical Genetics Service, The Princess Anne Hospital, Southampton Wessex Regional Genetics Laboratory, Salisbury Healthcare NHS Trust, Salisbury District Hospital, Salisbury, UK INSERM U393, Hopital Necker-Enfants Malades, Paris, France.
authors.forename: Helen
authors.initials: H
authors.lastname: Cox
authors.forename: Anneke
authors.initials: A
authors.lastname: Lucassen
authors.forename: Marlene
authors.initials: M
authors.lastname: Rio
authors.forename: Caroline
authors.initials: C
authors.lastname: Browne
authors.forename: Glenn
authors.initials: G
authors.lastname: Renforth
authors.forename: Lyndsey
authors.initials: L
authors.lastname: Craven
authors.forename: Tony
authors.initials: T
authors.lastname: Salmon
authors.forename: David I
authors.initials: DI
authors.lastname: Wilson
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D001024:Aortic Valve Stenosis / Q000235:genetics / Q000473:pathology; D001763:Blepharoptosis / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics / Q000473:pathology; D007621:Karyotyping; D007859:Learning Disabilities / Q000235:genetics / Q000473:pathology; D008297:Male; D008946:Mitral Valve Stenosis / Q000235:genetics / Q000473:pathology; D016615:Telomere / Q000235:genetics