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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.

Original publication

DOI

10.1097/mcd.0b013e3283202a1f

Type

Journal article

Journal

Clinical dysmorphology

Publication Date

04/2009

Volume

18

Pages

98 - 102

Addresses

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.

Keywords

Chromosomes, Human, Pair 11, Telomere, Humans, Hypertelorism, Blepharoptosis, Aortic Valve Stenosis, Mitral Valve Stenosis, Abnormalities, Multiple, Chromosome Deletion, Chromosome Banding, Karyotyping, Adolescent, Child, Child, Preschool, Female, Male, Learning Disabilities