Dataset Information

Insight into the 8p23.1 duplication syndrome: Case report of a young women with infertility.

ABSTRACT:

Objective

To report the case of a young woman with repeated conception failure, whose karyotype showed an unbalanced complex chromosomal rearrangement involving a large duplication harboring >115 genes and overlapping the 8p23.1 duplication syndrome region. The 8p23.1 duplication syndrome results from a tandem duplication on the short arm of chromosome 8 containing the 4 genes (GATA4, TNKS, SOX7, XKR6) responsible for the most common phenotypic features: developmental delay/learning disabilities, congenital heart disease and dysmorphism.

Design

Case report and review of the literature.

Setting

American University of Beirut Medical Center, department of Pathology and Laboratory medicine.Patient(s): Young woman referred to the genetic clinics for the workup of secondary idiopathic infertility with multiple unsuccessful inseminations and in vitro fertilizations.

Interventions

Peripheral blood karyotype analysis from the patient and her parents. Elucidation of the CCR required whole chromosome painting Fluorescent in Situ Hybridization and Chromosomal Microarray.

Main outcome measures

The few published reports on 8p23.1 duplication syndrome (<50 cases) describing carriers reveal a wide range of phenotypic consequences with heterogeneous severity. The main outcome is to further understand this syndrome.

Results

Chromosomal microarray analysis detected a large (12Mb) pathogenic Copy Number Variant (CNV) at 8p23.3p23.1, overlapping the 8p23.1 duplication syndrome region. This CNV, classified as pathogenic, was shown to carry little significance in our patient.

Conclusions

8p23.1 duplication syndrome display a variable expressivity, ranging from overt syndromic features to minimal effect on the phenotype as shown in this case. Interpretation of prenatal detection of 8p23.1 duplication especially in preimplantation diagnosis is thus challenging. Nevertheless, this case emphasizes the importance of genetic testing in infertile patients displaying a normal phenotype.

SUBMITTER: El Karaaoui A

PROVIDER: S-EPMC10130207 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Insight into the 8p23.1 duplication syndrome: Case report of a young women with infertility.

El Karaaoui AbdulKarim A Ghazeeri Ghina G Assaf Nada N

Heliyon 20230414 4

<h4>Objective</h4>To report the case of a young woman with repeated conception failure, whose karyotype showed an unbalanced complex chromosomal rearrangement involving a large duplication harboring >115 genes and overlapping the 8p23.1 duplication syndrome region. The 8p23.1 duplication syndrome results from a tandem duplication on the short arm of chromosome 8 containing the 4 genes (<i>GATA4</i>, <i>TNKS</i>, <i>SOX7</i>, <i>XKR6</i>) responsible for the most common phenotypic features: devel ...[more]

PMID: 37123967

Similar Datasets

Project description: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.

Dataset Information

Insight into the 8p23.1 duplication syndrome: Case report of a young women with infertility.

Objective

Design

Setting

Interventions

Main outcome measures

Results

Conclusions

Publications

Insight into the 8p23.1 duplication syndrome: Case report of a young women with infertility.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets