ArticleMolecular cytogenetics2010
8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families.
Article in Molecular cytogenetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Effect of copy number variants on outcomes for infants with single ventricle heart defects.Circulation. Cardiovascular genetics · 2013Trial
- Novel epigenetic loci identified from an epigenome-wide association study underlying brain structural changes in bipolar disorder.Psychological medicine · 2026Article
- Characterization of speech and language phenotype in the 8p23.1 syndrome.European child & adolescent psychiatry · 2024Article
- Insight into the 8p23.1 duplication syndrome: Case report of a young women with infertility.Heliyon · 2023Article
- Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and Encephalocele.Case reports in genetics · 2023Article
- Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family.BMC medical genomics · 2021Article
- Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women.Molecular cytogenetics · 2019Article
- Cytogenomic Aberrations in Congenital Cardiovascular Malformations.Molecular syndromology · 2016Review
- Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects.American journal of medical genetics. Part A · 2014Article
- A potential relationship among beta-defensins haplotype, SOX7 duplication and cardiac defects.PloS one · 2013Article
- Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.American journal of medical genetics. Part A · 2012Article
- Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification Assay.Journal of reproduction & infertility · 2012Article
- An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.Genetics in medicine : official journal of the American College of Medical Genetics · 2011Article
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Authors and funding
14 authors.
Funding
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Abstract
backgroundThe 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.
methodsAdditional 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).
resultsThree 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.
conclusionsOur 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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