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A novel pseudo-dicentric variant of 16p11.2-q11.2 contains Euchromatin from 16p11.2-p11.1 and resembles pathogenic duplications of proximal 16q

A novel pseudo-dicentric variant of 16p11.2-q11.2 contains Euchromatin from 16p11.2-p11.1 and resembles pathogenic duplications of proximal 16q
A novel pseudo-dicentric variant of 16p11.2-q11.2 contains Euchromatin from 16p11.2-p11.1 and resembles pathogenic duplications of proximal 16q
An unusually large G-light band between 2 G-dark bands in the proximal long arm of chromosome 16 was found in a boy of 5 years of age ascertained with growth retardation, microcephaly, and dysmorphic features. Dual color bacterial artificial chromosome fluorescence in situ hybridization (BAC FISH) and oligonucleotide array comparative genomic hybridization (oaCGH) were used to show that these bands contained a euchromatic duplication of a minimum of 940 kb between base pairs 34,197,413–35,137,025 in 16p11.2–p11.1 as well as a duplication of the centromere and major 16qh/16p11.2 heterochromatic block, covering a minimum of 12.3 Mb. The same pseudo-dicentric chromosome was found in the father who has attention deficit hyperactivity disorder (ADHD). The euchromatic region is not known to be subject to imprinting and overlaps multiple large copy number variations (CNVs) in the Database of Genomic Variants as well as similar CNVs that are benign or of uncertain significance in the International Standards for Cytogenomic Arrays database. We conclude that this family has a novel pseudo-dicentric euchromatic variant of chromosome 16 that is unlikely to be the cause of the variable phenotype in father and son but needs to be distinguished from heterochromatic variants or pathogenic duplications of proximal 16q.

16p11.2–q11.2, chromosome duplication, copy number variant, DNA array, euchromatic variant, human chromosome pair 16, pseudo-dicentric
1424-8581
59-64
Barber, J.C.K.
4785a6e4-bd63-4230-ab61-41a0ae12c761
Brasch-Andersen, C.
de7c5e84-4820-4a41-9998-0ab6e62c345a
Maloney, V.K.
02588a50-e8b2-486b-8d54-53cb32a0a035
Huang, S.
a8beb2a3-8e04-4d81-b6b8-453af8791721
Bateman, M.S.
b801f00d-3232-4dd9-ac93-3b1db1326c2c
Graakjaer, J.
43b1c373-37e1-4334-94eb-75f4ea2d0a6d
Heinl, U.D.
ce852ad1-e7b9-4274-8412-de80d7ee56c7
Fagerberg, C.
9841b76f-f6b0-4754-ac12-10daf34aa498
Barber, J.C.K.
4785a6e4-bd63-4230-ab61-41a0ae12c761
Brasch-Andersen, C.
de7c5e84-4820-4a41-9998-0ab6e62c345a
Maloney, V.K.
02588a50-e8b2-486b-8d54-53cb32a0a035
Huang, S.
a8beb2a3-8e04-4d81-b6b8-453af8791721
Bateman, M.S.
b801f00d-3232-4dd9-ac93-3b1db1326c2c
Graakjaer, J.
43b1c373-37e1-4334-94eb-75f4ea2d0a6d
Heinl, U.D.
ce852ad1-e7b9-4274-8412-de80d7ee56c7
Fagerberg, C.
9841b76f-f6b0-4754-ac12-10daf34aa498

Barber, J.C.K., Brasch-Andersen, C., Maloney, V.K., Huang, S., Bateman, M.S., Graakjaer, J., Heinl, U.D. and Fagerberg, C. (2013) A novel pseudo-dicentric variant of 16p11.2-q11.2 contains Euchromatin from 16p11.2-p11.1 and resembles pathogenic duplications of proximal 16q. Cytogenetic and Genome Research, 139 (1), 59-64. (doi:10.1159/000342542).

Record type: Article

Abstract

An unusually large G-light band between 2 G-dark bands in the proximal long arm of chromosome 16 was found in a boy of 5 years of age ascertained with growth retardation, microcephaly, and dysmorphic features. Dual color bacterial artificial chromosome fluorescence in situ hybridization (BAC FISH) and oligonucleotide array comparative genomic hybridization (oaCGH) were used to show that these bands contained a euchromatic duplication of a minimum of 940 kb between base pairs 34,197,413–35,137,025 in 16p11.2–p11.1 as well as a duplication of the centromere and major 16qh/16p11.2 heterochromatic block, covering a minimum of 12.3 Mb. The same pseudo-dicentric chromosome was found in the father who has attention deficit hyperactivity disorder (ADHD). The euchromatic region is not known to be subject to imprinting and overlaps multiple large copy number variations (CNVs) in the Database of Genomic Variants as well as similar CNVs that are benign or of uncertain significance in the International Standards for Cytogenomic Arrays database. We conclude that this family has a novel pseudo-dicentric euchromatic variant of chromosome 16 that is unlikely to be the cause of the variable phenotype in father and son but needs to be distinguished from heterochromatic variants or pathogenic duplications of proximal 16q.

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More information

Accepted/In Press date: 2 October 2012
Published date: January 2013
Keywords: 16p11.2–q11.2, chromosome duplication, copy number variant, DNA array, euchromatic variant, human chromosome pair 16, pseudo-dicentric
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 344189
URI: https://eprints.soton.ac.uk/id/eprint/344189
ISSN: 1424-8581
PURE UUID: 1d661bcd-55eb-4946-95df-bd769f47a890

Catalogue record

Date deposited: 15 Oct 2012 12:31
Last modified: 16 Jul 2019 21:52

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Contributors

Author: J.C.K. Barber
Author: C. Brasch-Andersen
Author: V.K. Maloney
Author: S. Huang
Author: M.S. Bateman
Author: J. Graakjaer
Author: U.D. Heinl
Author: C. Fagerberg

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