Two children with subtelomeric 11q deletions: a description and interpretation of their clinical presentations and molecular genetic findings

• Published in: Clinical dysmorphology Vol. 18; no. 2; p. 98
• Main Authors: Cox, Helen, Lucassen, Anneke, Rio, Marlene, Browne, Caroline, Renforth, Glenn, Craven, Lyndsey, Salmon, Tony, Wilson, David I
• Format: Journal Article
• Language: English
• Published: England 01.04.2009
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Adolescent; Aortic Valve Stenosis - genetics; Aortic Valve Stenosis - pathology; Blepharoptosis - genetics; Blepharoptosis - pathology; Child; Child, Preschool; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 11; Female; Humans; Hypertelorism - genetics; Hypertelorism - pathology; Karyotyping; Learning Disorders - genetics; Learning Disorders - pathology; Male; Mitral Valve Stenosis - genetics; Mitral Valve Stenosis - pathology; Telomere - genetics
• ISSN: 1473-5717
• DOI: 10.1097/MCD.0b013e3283202a1f

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.