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A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect

A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect
A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect
Cytogenetically visible imbalances without phenotypic effect are still rare despite the extent of large-scale copy number variation in the normal population revealed by array CGH. Here we report on a phenotypically normal 30-year-old female with a de novo, cytogenetically visible, interstitial deletion of band 4q34. She was referred following three successive miscarriages, one of which was an intra-uterine death with subendocardial fibroelastosis and dilated cardiomyopathy. There was no other notable medical or family history, she was of normal intelligence and had no dysmorphic features. FISH and Array CGH with a customized 1 Mb BAC array showed that the deletion is a minimum of 9.3 and a maximum of 10.7 Mb in size, between 173 Mb in 4q34.1 and 182 Mb in 4q34.3. The deletion contains only 23 known coding genes giving a low average gene density of 2 genes/Mb. This case further illustrates that (1) sizeable imbalances can be associated with apparent phenotypic normality, (2) gene density is a better guide to possible phenotypic consequences than aberration size, and (3) it is not always safe to assume that de novo imbalances will be causal.
deletion, 4q34, no phenotypic effect, non-pathogenic, gene paucity, de novo
0148-7299
1764-1769
Bateman, Mark S.
78a529cd-b8d1-4cf3-9f46-1da3cb19bfaa
Mehta, Sarju G.
485e0fbf-763e-46d7-807e-2e43f2b6e183
Willatt, Lionel
8bcb2c89-bb9b-46c9-a354-f395986cbd69
Selkirk, Elizabeth
7fec7634-e5bd-4e26-8b01-7cb4a881dc13
Bedwell, Clare
4b94f532-b5cb-42e9-be91-c63549e1d73f
Zwolinski, Simon
f80e9585-eef1-4937-8726-f6734ca480bf
Sparnon, Leeanne
903173cf-01ee-4590-b201-5d817f091139
Simonic, Ingrid
1e92b99d-780e-4d07-b7df-688950d0a257
Abbott, Kristin
ff2eec6d-ec56-4fa3-a1f4-fd1649348917
Barber, John C.K.
4785a6e4-bd63-4230-ab61-41a0ae12c761
Bateman, Mark S.
78a529cd-b8d1-4cf3-9f46-1da3cb19bfaa
Mehta, Sarju G.
485e0fbf-763e-46d7-807e-2e43f2b6e183
Willatt, Lionel
8bcb2c89-bb9b-46c9-a354-f395986cbd69
Selkirk, Elizabeth
7fec7634-e5bd-4e26-8b01-7cb4a881dc13
Bedwell, Clare
4b94f532-b5cb-42e9-be91-c63549e1d73f
Zwolinski, Simon
f80e9585-eef1-4937-8726-f6734ca480bf
Sparnon, Leeanne
903173cf-01ee-4590-b201-5d817f091139
Simonic, Ingrid
1e92b99d-780e-4d07-b7df-688950d0a257
Abbott, Kristin
ff2eec6d-ec56-4fa3-a1f4-fd1649348917
Barber, John C.K.
4785a6e4-bd63-4230-ab61-41a0ae12c761

Bateman, Mark S., Mehta, Sarju G., Willatt, Lionel, Selkirk, Elizabeth, Bedwell, Clare, Zwolinski, Simon, Sparnon, Leeanne, Simonic, Ingrid, Abbott, Kristin and Barber, John C.K. (2010) A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect. American Journal of Medical Genetics Part A, 152A (7), 1764-1769. (doi:10.1002/ajmg.a.33426).

Record type: Article

Abstract

Cytogenetically visible imbalances without phenotypic effect are still rare despite the extent of large-scale copy number variation in the normal population revealed by array CGH. Here we report on a phenotypically normal 30-year-old female with a de novo, cytogenetically visible, interstitial deletion of band 4q34. She was referred following three successive miscarriages, one of which was an intra-uterine death with subendocardial fibroelastosis and dilated cardiomyopathy. There was no other notable medical or family history, she was of normal intelligence and had no dysmorphic features. FISH and Array CGH with a customized 1 Mb BAC array showed that the deletion is a minimum of 9.3 and a maximum of 10.7 Mb in size, between 173 Mb in 4q34.1 and 182 Mb in 4q34.3. The deletion contains only 23 known coding genes giving a low average gene density of 2 genes/Mb. This case further illustrates that (1) sizeable imbalances can be associated with apparent phenotypic normality, (2) gene density is a better guide to possible phenotypic consequences than aberration size, and (3) it is not always safe to assume that de novo imbalances will be causal.

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More information

Published date: 25 June 2010
Keywords: deletion, 4q34, no phenotypic effect, non-pathogenic, gene paucity, de novo
Organisations: Human Genetics

Identifiers

Local EPrints ID: 159429
URI: https://eprints.soton.ac.uk/id/eprint/159429
ISSN: 0148-7299
PURE UUID: 62a0da4d-1c39-4e5e-864d-aa0700fd7b04

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Date deposited: 30 Jun 2010 09:21
Last modified: 19 Dec 2018 17:31

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Contributors

Author: Mark S. Bateman
Author: Sarju G. Mehta
Author: Lionel Willatt
Author: Elizabeth Selkirk
Author: Clare Bedwell
Author: Simon Zwolinski
Author: Leeanne Sparnon
Author: Ingrid Simonic
Author: Kristin Abbott
Author: John C.K. Barber

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