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Case Reports
. 2009 Apr;18(2):98-102.
doi: 10.1097/MCD.0b013e3283202a1f.

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

Helen Cox  1 , Anneke Lucassen, Marlene Rio, Caroline Browne, Glenn Renforth, Lyndsey Craven, Tony Salmon, David I Wilson
Affiliations
Case Reports

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

Helen Cox et al. Clin Dysmorphol. 2009 Apr.

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.

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References

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