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De novo interstitial deletion 2q14.1q22.1: is there a recognizable phenotype?

De novo interstitial deletion 2q14.1q22.1: is there a recognizable phenotype?
De novo interstitial deletion 2q14.1q22.1: is there a recognizable phenotype?
In this report we describe a male patient with a rare de novo interstitial deletion of chromosome 2q14.1–q22.1. His karyotype was reported as 46,XY,del(2)(q13q21) but subsequent array comparative genomic hybridization (array CGH) analysis redefined the deletion breakpoints as 2q14.1 and 2q22.1. Eight patients have been reported with deletions either within or spanning the region 2q13 or 2q14 to 2q22.1. In five patients the diagnosis was made by karyotype analysis alone and in three reported patients and the proband array CGH analysis was also performed. When the proband was compared with the eight previously reported patients it was apparent that they shared many clinical findings suggesting that patients with a de novo interstitial deletion involving 2q13 or 2q14 to 2q21 or 2q22 may have a recognizable phenotype. There are 14 known disease-associated genes in the deleted region of 2q14.1–q22.1 and their possible phenotypic effects on the proband and the eight previously reported patients are discussed.
1552-4825
3194-3202
Greally, Marie T.
1b73e040-9c19-4889-9e35-4802d734a6c7
Robinson, Eve
0c8429b5-5fb5-454f-811e-877e00015f3b
Allen, Nicholas M.
2a964afc-593e-4c97-9431-a5abe72e562f
O'Donovan, Donough
df60f1ba-ff2b-4db1-8867-16aa26285310
Crolla, John A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Greally, Marie T.
1b73e040-9c19-4889-9e35-4802d734a6c7
Robinson, Eve
0c8429b5-5fb5-454f-811e-877e00015f3b
Allen, Nicholas M.
2a964afc-593e-4c97-9431-a5abe72e562f
O'Donovan, Donough
df60f1ba-ff2b-4db1-8867-16aa26285310
Crolla, John A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c

Greally, Marie T., Robinson, Eve, Allen, Nicholas M., O'Donovan, Donough and Crolla, John A. (2014) De novo interstitial deletion 2q14.1q22.1: is there a recognizable phenotype? American Journal of Medical Genetics part A, 164 (12), 3194-3202. (doi:10.1002/ajmg.a.36786). (PMID:25263257)

Record type: Article

Abstract

In this report we describe a male patient with a rare de novo interstitial deletion of chromosome 2q14.1–q22.1. His karyotype was reported as 46,XY,del(2)(q13q21) but subsequent array comparative genomic hybridization (array CGH) analysis redefined the deletion breakpoints as 2q14.1 and 2q22.1. Eight patients have been reported with deletions either within or spanning the region 2q13 or 2q14 to 2q22.1. In five patients the diagnosis was made by karyotype analysis alone and in three reported patients and the proband array CGH analysis was also performed. When the proband was compared with the eight previously reported patients it was apparent that they shared many clinical findings suggesting that patients with a de novo interstitial deletion involving 2q13 or 2q14 to 2q21 or 2q22 may have a recognizable phenotype. There are 14 known disease-associated genes in the deleted region of 2q14.1–q22.1 and their possible phenotypic effects on the proband and the eight previously reported patients are discussed.

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More information

Accepted/In Press date: 26 September 2014
Published date: December 2014
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 369548
URI: http://eprints.soton.ac.uk/id/eprint/369548
ISSN: 1552-4825
PURE UUID: a57e95d6-3b19-479d-830f-5b05843b8eda

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Date deposited: 07 Oct 2014 11:52
Last modified: 14 Mar 2024 18:05

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Contributors

Author: Marie T. Greally
Author: Eve Robinson
Author: Nicholas M. Allen
Author: Donough O'Donovan
Author: John A. Crolla

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