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Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion
Aniridia, Wilms tumor, genitourinary abnormalities, growth and mental retardation are the cardinal features of the WAGR 11p13 deletion syndrome. The Potocki?Schaffer syndrome or proximal 11p deletion syndrome (previously DEFECT11 syndrome) is a contiguous gene syndrome associated with deletions in 11p11.2, principal features of which are multiple exostoses and enlarged parietal foramina. Mental handicap, facial dysmorphism and craniosynostosis may also be associated. We report a patient with combined WAGR and Potocki?Shaffer syndromes, and obesity. She presented with aniridia, cataract, nystagmus, corneal ulcers and bilateral congenital ptosis. A left nephroblastoma was detected at 15 months. Other features included moderate developmental delay, growth deficiency, facial dysmorphism, multiple exostoses and cranial lacunae. High-resolution and molecular cytogenetics confirmed a del(11)(p11.2p14.1) deletion with a proximal breakpoint between the cosmid DO8153 and the BAC RP11-104M24 to a distal breakpoint between cosmids CO8160 (D11S151) and F1238 (D11S1446). The deletion therefore includes EXT2, ALX4, WT1 and PAX6. This case appears to be the second patient reported with this combined deletion syndrome and confirms the association of obesity in the WAGR spectrum, a feature previously reported in four cases, and for which the acronym WAGRO has been suggested. Molecular and follow-up data on the original WAGRO case are briefly presented.
1018-4813
409 - 413
Bremond-Gignac, D.
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Crolla, J. A.
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Copin, H.
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Guichet, A.
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Bonneau, D.
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Taine, L.
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Lacombe, D.
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Baumann, C.
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Benzacken, B.
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Verloes, A.
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Bremond-Gignac, D.
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Crolla, J. A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Copin, H.
299ee0f4-ba61-43c2-8af6-d17745efdc79
Guichet, A.
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Bonneau, D.
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Taine, L.
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Lacombe, D.
576c929c-e976-4584-b3fe-a5954493fcb5
Baumann, C.
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Benzacken, B.
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Verloes, A.
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Bremond-Gignac, D., Crolla, J. A., Copin, H., Guichet, A., Bonneau, D., Taine, L., Lacombe, D., Baumann, C., Benzacken, B. and Verloes, A. (2005) Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. European Journal of Human Genetics, 13 (4), 409 - 413. (doi:10.1038/sj.ejhg.5201358).

Record type: Article

Abstract

Aniridia, Wilms tumor, genitourinary abnormalities, growth and mental retardation are the cardinal features of the WAGR 11p13 deletion syndrome. The Potocki?Schaffer syndrome or proximal 11p deletion syndrome (previously DEFECT11 syndrome) is a contiguous gene syndrome associated with deletions in 11p11.2, principal features of which are multiple exostoses and enlarged parietal foramina. Mental handicap, facial dysmorphism and craniosynostosis may also be associated. We report a patient with combined WAGR and Potocki?Shaffer syndromes, and obesity. She presented with aniridia, cataract, nystagmus, corneal ulcers and bilateral congenital ptosis. A left nephroblastoma was detected at 15 months. Other features included moderate developmental delay, growth deficiency, facial dysmorphism, multiple exostoses and cranial lacunae. High-resolution and molecular cytogenetics confirmed a del(11)(p11.2p14.1) deletion with a proximal breakpoint between the cosmid DO8153 and the BAC RP11-104M24 to a distal breakpoint between cosmids CO8160 (D11S151) and F1238 (D11S1446). The deletion therefore includes EXT2, ALX4, WT1 and PAX6. This case appears to be the second patient reported with this combined deletion syndrome and confirms the association of obesity in the WAGR spectrum, a feature previously reported in four cases, and for which the acronym WAGRO has been suggested. Molecular and follow-up data on the original WAGRO case are briefly presented.

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Published date: 2005

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Local EPrints ID: 24637
URI: http://eprints.soton.ac.uk/id/eprint/24637
ISSN: 1018-4813
PURE UUID: 08587480-629a-424c-a8fb-9241df26fd5f

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Date deposited: 03 Apr 2006
Last modified: 15 Jul 2019 19:17

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Contributors

Author: D. Bremond-Gignac
Author: J. A. Crolla
Author: H. Copin
Author: A. Guichet
Author: D. Bonneau
Author: L. Taine
Author: D. Lacombe
Author: C. Baumann
Author: B. Benzacken
Author: A. Verloes

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