Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

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




Journal article


Clinical dysmorphology

Publication Date





98 - 102


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.


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