ArticleMolecular medicine reports2017
Chromosome 13q deletion syndrome involving 13q31‑qter: A case report.
Article in Molecular medicine reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- 13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies.International journal of molecular sciences · 2025Article
- Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.American journal of human genetics · 2024Article
- Article
- Prenatal Sonographic Features of Rare Chromosome 13 Aberrations.The application of clinical genetics · 2022Article
- A rare unbalanced translocation (trisomy 5q33.3-qter, monosomy 13q34-qter) results in growth hormone deficiency and brain anomalies.Molecular genetics & genomic medicine · 2021Article
- The role of basement membranes in cardiac biology and disease.Bioscience reports · 2021Review
- Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication.American journal of medical genetics. Part A · 2021Article
- Fetus of 8q22.2q24.3 duplication and 13q33.2q34 deletion derived from a maternal balanced translocation.The journal of obstetrics and gynaecology research · 2020Article
- Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era.Clinical case reports · 2020Article
- Reduced anogenital distance, hematuria and left renal hypoplasia in a patient with 13q33.1-34 deletion: case report and literature review.BMC pediatrics · 2020Review
- 13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping.Molecular cytogenetics · 2020Article
- COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.Human genetics · 2019Article
- Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype.Molecular syndromology · 2019Article
- Essential roles of EphrinB2 in mammalian heart: from development to diseases.Cell communication and signaling : CCS · 2019Review
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4 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Partial deletions on the long arm of chromosome 13 lead to a number of different phenotypes depending on the size and position of the deleted region. The present study investigated 2 patients with 13q terminal (13qter) deletion syndrome, which manifested as anal atresia with rectoperineal fistula, complex type congenital heart disease, esophageal hiatus hernia with gastroesophageal reflux, facial anomalies and developmental and mental retardation. Array comparative genomic hybridization identified 2 regions of deletion on chromosome 13q31‑qter; 20.38 Mb in 13q31.3‑qter and 12.99 Mb in 13q33.1‑qter in patients 1 and 2, respectively. Comparisons between the results observed in the present study and those obtained from patients in previous studies indicate that the gene encoding ephrin B2 (EFNB2) located in the 13q33.3‑q34 region, and the gene coding for endothelin receptor type B, in the 13q22.1‑31.3 region, may be suitable candidate genes for the observed urogenital/anorectal anomalies. In addition, the microRNA‑17‑92a‑1 cluster host gene and the glypican 6 gene in the 13q31.3 region, as well as EFNB2 and the collagen type IV a1 chain (COL4A1) and COL4A2 genes in the 13q33.1‑q34 region may together contribute to cardiovascular disease development. It is therefore possible that these genes may be involved in the pathogenesis of complex type congenital heart disease in patients with 13q deletion syndrome.
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