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A highly complex rea(2;3;11) and aniridia by position effect

A highly complex rea(2;3;11) and aniridia by position effect
A highly complex rea(2;3;11) and aniridia by position effect
A two-year-old boy presenting with bilateral aniridia and psychomotor retardation had a de novo (2;3;11) highly complex rearrangement which was characterized as far as possible by means of G-banding and FISH assays with multiple probes including cosmids for the Wilms, Aniridia, Genital anomalies and Retardation (WAGR) region, alphoid repeats for chromosomes 2, 3 and 11, subtelomere probes for 2p/2q, 3p/3q and 11q and BACs for 2q32 and 3q13. We identified approximately 15 breakpoints with at least three interchromosomal and three intrachromosome anomalies involving chromosome 11. Both parents had normal karyotypes and no cryptic 11p rearrangements revealed by the chromosome 11 cosmid panel. The lack of a deletion of PAX6 pointed to the direct insertion of an approximately 300-kb segment involving the cosmids FO2121 and AO4160, and more specifically the insertion's proximal breakpoint in the approximately 150-kb segment between FO2121 and FAT5 (PAX6), as the responsible factor for the patient's aniridia via a position effect resulting in functional haploinsufficiency of the PAX6 gene. This case illustrates the importance of recognizing that de novo complex chromosomal rearrangements found in patients with diverse clinical features may contribute to the phenotype, but that multiple mechanisms and higher levels of complexity may be unmasked by high resolution molecular cytogenetic studies.
fluorescence, child, pair 11, cosmids, gene rearrangement, phenotype, human, in situ hybridization, parents, chromosomes, patients, chromosome mapping
1424-8581
83-88
Rivera, H.
7622bd5d-42cf-4a7d-a318-33b2df9b8ca6
Yala-Madrigal, M.L.
4e485be5-1f6e-47b9-bf3b-c9c2eb694e28
Barros-Nunez, J.P.
4fa2ae00-56f7-4d54-bcb3-2e20781775d8
Rnaud-Lopez, L.
53d61873-4b52-40c8-b0dc-2bd10a225b05
Maloney, V.
07e33c11-8048-490b-b93f-ae53f878d002
Crolla, J.A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Rivera, H.
7622bd5d-42cf-4a7d-a318-33b2df9b8ca6
Yala-Madrigal, M.L.
4e485be5-1f6e-47b9-bf3b-c9c2eb694e28
Barros-Nunez, J.P.
4fa2ae00-56f7-4d54-bcb3-2e20781775d8
Rnaud-Lopez, L.
53d61873-4b52-40c8-b0dc-2bd10a225b05
Maloney, V.
07e33c11-8048-490b-b93f-ae53f878d002
Crolla, J.A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c

Rivera, H., Yala-Madrigal, M.L., Barros-Nunez, J.P., Rnaud-Lopez, L., Maloney, V. and Crolla, J.A. (2006) A highly complex rea(2;3;11) and aniridia by position effect. Cytogenetic and Genome Research, 114 (1), 83-88. (doi:10.1159/000091933).

Record type: Article

Abstract

A two-year-old boy presenting with bilateral aniridia and psychomotor retardation had a de novo (2;3;11) highly complex rearrangement which was characterized as far as possible by means of G-banding and FISH assays with multiple probes including cosmids for the Wilms, Aniridia, Genital anomalies and Retardation (WAGR) region, alphoid repeats for chromosomes 2, 3 and 11, subtelomere probes for 2p/2q, 3p/3q and 11q and BACs for 2q32 and 3q13. We identified approximately 15 breakpoints with at least three interchromosomal and three intrachromosome anomalies involving chromosome 11. Both parents had normal karyotypes and no cryptic 11p rearrangements revealed by the chromosome 11 cosmid panel. The lack of a deletion of PAX6 pointed to the direct insertion of an approximately 300-kb segment involving the cosmids FO2121 and AO4160, and more specifically the insertion's proximal breakpoint in the approximately 150-kb segment between FO2121 and FAT5 (PAX6), as the responsible factor for the patient's aniridia via a position effect resulting in functional haploinsufficiency of the PAX6 gene. This case illustrates the importance of recognizing that de novo complex chromosomal rearrangements found in patients with diverse clinical features may contribute to the phenotype, but that multiple mechanisms and higher levels of complexity may be unmasked by high resolution molecular cytogenetic studies.

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More information

Published date: January 2006
Keywords: fluorescence, child, pair 11, cosmids, gene rearrangement, phenotype, human, in situ hybridization, parents, chromosomes, patients, chromosome mapping

Identifiers

Local EPrints ID: 60168
URI: http://eprints.soton.ac.uk/id/eprint/60168
ISSN: 1424-8581
PURE UUID: 24909da2-ec20-40b6-9ed9-58d5b49975a0

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Date deposited: 05 Sep 2008
Last modified: 15 Mar 2024 11:19

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Contributors

Author: H. Rivera
Author: M.L. Yala-Madrigal
Author: J.P. Barros-Nunez
Author: L. Rnaud-Lopez
Author: V. Maloney
Author: J.A. Crolla

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