Two children with subtelomeric 11q deletions: a description and interpretation of their clinical presentations and molecular genetic findings
Two children with subtelomeric 11q deletions: a description and interpretation of their clinical presentations and molecular genetic findings
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
11q subtelomere deletion, hypertelorism, jacobsen syndrome, learning difficulty, ptosis
98-102
Cox, Helen
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Lucassen, Anneke
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Rio, Marlene
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Browne, Caroline
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Renforth, Glenn
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Craven, Lyndsey
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Salmon, Tony
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Wilson, David I.
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April 2009
Cox, Helen
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Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Rio, Marlene
50b043bd-ce59-4508-afa8-5a9daae92e62
Browne, Caroline
58240f37-aff6-4ef9-9961-c370b1a86562
Renforth, Glenn
b419e9b7-8cd5-40ce-89a7-75a07d01ec9c
Craven, Lyndsey
8b0ce9e9-293d-495a-92dc-394284bcd6c0
Salmon, Tony
6bfc5458-fb73-4685-a42f-aff7ae83e23f
Wilson, David I.
1500fca1-7082-4271-95f4-691f1d1252a2
Cox, Helen, Lucassen, Anneke, Rio, Marlene, Browne, Caroline, Renforth, Glenn, Craven, Lyndsey, Salmon, Tony and Wilson, David I.
(2009)
Two children with subtelomeric 11q deletions: a description and interpretation of their clinical presentations and molecular genetic findings.
Clinical Dysmorphology, 18 (2), .
(doi:10.1097/MCD.0b013e3283202a1f).
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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Published date: April 2009
Keywords:
11q subtelomere deletion, hypertelorism, jacobsen syndrome, learning difficulty, ptosis
Identifiers
Local EPrints ID: 69560
URI: http://eprints.soton.ac.uk/id/eprint/69560
ISSN: 0962-8827
PURE UUID: da7bb7e3-088f-461b-b747-08e81320774d
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Date deposited: 18 Nov 2009
Last modified: 14 Mar 2024 02:46
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Author:
Helen Cox
Author:
Marlene Rio
Author:
Caroline Browne
Author:
Glenn Renforth
Author:
Lyndsey Craven
Author:
Tony Salmon
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