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8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families
8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families
Background: the 8p23.1 duplication syndrome and copy number variation of the 8p23.1 defensin gene cluster are cytogenetically indistinguishable but distinct at the molecular level. To our knowledge, the 8p23.1 duplication syndrome has been described at prenatal diagnosis only once and we report our experience with four further apparent duplications ascertained at prenatal diagnosis.
Methods: additional material at band 8p23.1 was detected using conventional G-banded cytogenetics in each case. Multiplex Ligation-dependent Probe Amplification (MLPA) or Fluorescence In Situ Hybridisation (FISH) were used depending on whether only DNA (Cases 1 and 4) or cytogenetic preparations (Cases 2 and 3) were available from the laboratory of origin. The extent of the duplication in Case 1 was retrospectively determined using array Comparative Genomic Hybridisation (array CGH).
Results: three cases of 8p23.1 duplication syndrome were found (Cases 1 to 3). Two were de novo and continued to term and the third, a paternally transmitted duplication, was terminated because of a previous child with psychomotor delay and 8p23.1 duplication syndrome. Case 1 was ascertained with a hypoplastic left heart but the ventricular septal and interventricular defects, in Cases 2 and 3 respectively, were found after ascertainment for advanced maternal age. By contrast, case 4 was a maternally transmitted copy number variation of the defensin cluster with normal outcome.
Conclusions: our data underline the need to differentiate 8p23.1 duplications from copy number variation of the defensin cluster using FISH, MLPA or array CGH. Cardiac defects were ascertained by ultrasound in only one of the three duplication 8p23.1 pregnancies but were visible in two of the three at 21 to 22 weeks gestation. Our results provide further evidence that both deletion and duplication of the GATA4 transcription factor can give rise to a variety of conotruncal heart defects with variable penetrance and expressivity
1755-8166
Barber, John C.K.
4785a6e4-bd63-4230-ab61-41a0ae12c761
Bunyan, Dave
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Curtis, Merryl
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Robinson, Denise
aa490960-14a2-4c19-a0f2-c12bbf21550c
Morlot, Susanne
5bde4c98-9138-427c-9ed1-35d98ba8dbf0
Dermitzel, Anette
41e87906-23ad-4503-b49e-e6f4cd918e22
Liehr, Thomas
b99d17d3-69ab-4bac-8774-5d21177abcda
Alves, Claudia
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Trindade, Joana
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Paramos, Ana I.
86588d0e-b6da-47e2-8ade-7b804d7f0086
Cooper, Clare
e36d91b3-418a-4ff9-9293-09b91f8bb988
Ocraft, Kevin
feeb192d-c5a8-4ace-9311-f582ccbb876c
Taylor, Emma-Jane
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Maloney, Viv K.
a2d7cd03-153c-418a-855d-cf4a8d4e9a50
Barber, John C.K.
4785a6e4-bd63-4230-ab61-41a0ae12c761
Bunyan, Dave
7596990f-9ce2-49f8-93cd-67e5f13f3774
Curtis, Merryl
c7644c8e-5622-4ec0-a89c-aecbc1163bf7
Robinson, Denise
aa490960-14a2-4c19-a0f2-c12bbf21550c
Morlot, Susanne
5bde4c98-9138-427c-9ed1-35d98ba8dbf0
Dermitzel, Anette
41e87906-23ad-4503-b49e-e6f4cd918e22
Liehr, Thomas
b99d17d3-69ab-4bac-8774-5d21177abcda
Alves, Claudia
0c1f6a28-6f14-4181-b9f4-95a0b82ccb73
Trindade, Joana
8a2e9ebc-28e7-46e6-aa3f-7d4a39e2c135
Paramos, Ana I.
86588d0e-b6da-47e2-8ade-7b804d7f0086
Cooper, Clare
e36d91b3-418a-4ff9-9293-09b91f8bb988
Ocraft, Kevin
feeb192d-c5a8-4ace-9311-f582ccbb876c
Taylor, Emma-Jane
15ca3766-cb76-4217-999e-ada378903d58
Maloney, Viv K.
a2d7cd03-153c-418a-855d-cf4a8d4e9a50

Barber, John C.K., Bunyan, Dave, Curtis, Merryl, Robinson, Denise, Morlot, Susanne, Dermitzel, Anette, Liehr, Thomas, Alves, Claudia, Trindade, Joana, Paramos, Ana I., Cooper, Clare, Ocraft, Kevin, Taylor, Emma-Jane and Maloney, Viv K. (2010) 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families. Molecular Cytogenetics, 3 (1). (doi:10.1186/1755-8166-3-3).

Record type: Article

Abstract

Background: the 8p23.1 duplication syndrome and copy number variation of the 8p23.1 defensin gene cluster are cytogenetically indistinguishable but distinct at the molecular level. To our knowledge, the 8p23.1 duplication syndrome has been described at prenatal diagnosis only once and we report our experience with four further apparent duplications ascertained at prenatal diagnosis.
Methods: additional material at band 8p23.1 was detected using conventional G-banded cytogenetics in each case. Multiplex Ligation-dependent Probe Amplification (MLPA) or Fluorescence In Situ Hybridisation (FISH) were used depending on whether only DNA (Cases 1 and 4) or cytogenetic preparations (Cases 2 and 3) were available from the laboratory of origin. The extent of the duplication in Case 1 was retrospectively determined using array Comparative Genomic Hybridisation (array CGH).
Results: three cases of 8p23.1 duplication syndrome were found (Cases 1 to 3). Two were de novo and continued to term and the third, a paternally transmitted duplication, was terminated because of a previous child with psychomotor delay and 8p23.1 duplication syndrome. Case 1 was ascertained with a hypoplastic left heart but the ventricular septal and interventricular defects, in Cases 2 and 3 respectively, were found after ascertainment for advanced maternal age. By contrast, case 4 was a maternally transmitted copy number variation of the defensin cluster with normal outcome.
Conclusions: our data underline the need to differentiate 8p23.1 duplications from copy number variation of the defensin cluster using FISH, MLPA or array CGH. Cardiac defects were ascertained by ultrasound in only one of the three duplication 8p23.1 pregnancies but were visible in two of the three at 21 to 22 weeks gestation. Our results provide further evidence that both deletion and duplication of the GATA4 transcription factor can give rise to a variety of conotruncal heart defects with variable penetrance and expressivity

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Published date: February 2010

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Local EPrints ID: 72742
URI: https://eprints.soton.ac.uk/id/eprint/72742
ISSN: 1755-8166
PURE UUID: 921ce7d3-edc0-4ced-81e3-a00f5cb6e262

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Date deposited: 24 Feb 2010
Last modified: 09 Feb 2018 17:31

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Contributors

Author: John C.K. Barber
Author: Dave Bunyan
Author: Merryl Curtis
Author: Denise Robinson
Author: Susanne Morlot
Author: Anette Dermitzel
Author: Thomas Liehr
Author: Claudia Alves
Author: Joana Trindade
Author: Ana I. Paramos
Author: Clare Cooper
Author: Kevin Ocraft
Author: Emma-Jane Taylor
Author: Viv K. Maloney

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