ArticleMolecular syndromology2019
Interstitial Deletion of 5q22.2q23.1 Including
Article in Molecular syndromology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 7 citations in OpenAlex.
- Genetic differences in familial adenomatous polyposis syndrome in a Hungarian population: A prospective single center study.World journal of gastroenterology · 2026Article
- Identification of TSSK1 and TSSK2 as Novel Targets for Male Contraception.Biomolecules · 2025Article
- Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability.Human genome variation · 2024Article
- The Biological Characteristics and Differential Expression Patterns ofAnimals : an open access journal from MDPI · 2023Article
- Role of testis‑specific serine kinase 1B in undiagnosed male infertility.Molecular medicine reports · 2022Article
- Using publicly available transcriptomic data to identify mechanistic and diagnostic biomarkers in azoospermia and overall male infertility.Scientific reports · 2022Article
- Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for Diagnosis.Cancers · 2022Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Interstitial 5q22 deletions are relatively rare and usually represented by severe clinical features such as developmental delay and growth retardation. Here, we report a 23-year-old male patient, referred to our laboratory for genetic confirmation of possible familial adenomatous polyposis. MLPA and the subsequent array CGH identified an approximately 8-Mb-sized deletion in the 5q22.2q23.1 locus. Further analysis of the deleted region and the genes within suggested a possible role for the
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