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Another family with a euchromatic duplication variant of 9q13-q21.1 Derived from segmentally duplicated pericentromeric euchromatin

Another family with a euchromatic duplication variant of 9q13-q21.1 Derived from segmentally duplicated pericentromeric euchromatin
Another family with a euchromatic duplication variant of 9q13-q21.1 Derived from segmentally duplicated pericentromeric euchromatin
Microscopically visible copy number variations within the proximal short arm heterochromatin and proximal long arm of chromosome 9 have been described as euchromatic variants (EVs) and are derived from extensive segmental duplications (SDs) that map to both the proximal short and long arms of chromosome 9. Recently, 3-4 additional copies of an SD cassette were found in 2 families with duplication EVs of 9q13-q21. Here, we report a third family with a duplication EV of 9q13-q21.1 that was ascertained at prenatal diagnosis for advanced maternal age and found in the fetus and her phenotypically normal mother. Dual-colour fluorescence in situ hybridization with bacterial artificial chromosomes RP11-246P17 and RP11-211E19 was consistent with the EV chromosome having 1-2 additional copies of a similar SD cassette, except that the SD-boundary clone RP11-88I18 was not apparently included. It is important to distinguish the 9q13-q21.1 EVs from possible pathogenic imbalances of chromosome 9, especially at prenatal diagnosis, as these EVs have no established phenotypic or reproductive consequences. The nature of the G-dark bands in 9q13-q21 EVs is briefly discussed.
1424-8581
64-69
Barber, J. C. K.
4785a6e4-bd63-4230-ab61-41a0ae12c761
Rodrigues, R.
158a3cc5-8b92-45dd-922d-830b4d58698e
Maloney, V. K.
c6b2c782-880c-4a1c-b44a-48073cbba7f9
Taborda, F.
aa45a7ee-2bd1-43eb-b671-8c49b4975c59
Rodrigues, M. do C.
fce53bba-ddb0-4cc0-80d1-e67f2d9cfcda
Bateman, M. S.
8633d05b-0375-4cae-afbc-693e2cbc3e89
Barber, J. C. K.
4785a6e4-bd63-4230-ab61-41a0ae12c761
Rodrigues, R.
158a3cc5-8b92-45dd-922d-830b4d58698e
Maloney, V. K.
c6b2c782-880c-4a1c-b44a-48073cbba7f9
Taborda, F.
aa45a7ee-2bd1-43eb-b671-8c49b4975c59
Rodrigues, M. do C.
fce53bba-ddb0-4cc0-80d1-e67f2d9cfcda
Bateman, M. S.
8633d05b-0375-4cae-afbc-693e2cbc3e89

Barber, J. C. K., Rodrigues, R., Maloney, V. K., Taborda, F., Rodrigues, M. do C. and Bateman, M. S. (2013) Another family with a euchromatic duplication variant of 9q13-q21.1 Derived from segmentally duplicated pericentromeric euchromatin. Cytogenetic and Genome Research, 141 (4), 64-69. (doi:10.1159/000350870). (PMID:23651944)

Record type: Article

Abstract

Microscopically visible copy number variations within the proximal short arm heterochromatin and proximal long arm of chromosome 9 have been described as euchromatic variants (EVs) and are derived from extensive segmental duplications (SDs) that map to both the proximal short and long arms of chromosome 9. Recently, 3-4 additional copies of an SD cassette were found in 2 families with duplication EVs of 9q13-q21. Here, we report a third family with a duplication EV of 9q13-q21.1 that was ascertained at prenatal diagnosis for advanced maternal age and found in the fetus and her phenotypically normal mother. Dual-colour fluorescence in situ hybridization with bacterial artificial chromosomes RP11-246P17 and RP11-211E19 was consistent with the EV chromosome having 1-2 additional copies of a similar SD cassette, except that the SD-boundary clone RP11-88I18 was not apparently included. It is important to distinguish the 9q13-q21.1 EVs from possible pathogenic imbalances of chromosome 9, especially at prenatal diagnosis, as these EVs have no established phenotypic or reproductive consequences. The nature of the G-dark bands in 9q13-q21 EVs is briefly discussed.

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e-pub ahead of print date: 4 May 2013
Published date: 2013
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 352455
URI: http://eprints.soton.ac.uk/id/eprint/352455
ISSN: 1424-8581
PURE UUID: f4fae14e-b0b9-48f8-abcf-a0a3719446bb

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Date deposited: 14 May 2013 11:21
Last modified: 08 Jan 2022 18:00

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Contributors

Author: J. C. K. Barber
Author: R. Rodrigues
Author: V. K. Maloney
Author: F. Taborda
Author: M. do C. Rodrigues
Author: M. S. Bateman

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