Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of Literature

Autor: Țuțulan-Cuniță A, Pavel AG, Dimos L, Nedelea M, Ursuleanu A, Neacșu AT, Budișteanu M, Stambouli D

Publikováno v: Balkan Journal of Medical Genetics, Vol 24, Iss 2, Pp 71-82 (2022)

Chromosome 17q12 microdeletion syndrome is a contiguous gene deletion syndrome caused by an 1–2 Mb loss, characterized by multicystic dysplastic kidneys or other urinary system anomalies starting in utero, including autism or maturity-onset diabete

Externí odkaz: https://doaj.org/article/19d30e241ad844cabfb5c8b9e2ecb69a

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Prenatal diagnosis of a pure 15q distal trisomy derived from a maternal pericentric inversion: A case report.

Autor: Burada F; Human Genomics Laboratory, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.; Regional Center of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania., Streata I; Human Genomics Laboratory, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.; Regional Center of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania., Ungureanu A; Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.; Department of Pediatric Cardiology, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania., Ruican D; Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania., Nagy R; Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania., Serban-Sosoi S; Human Genomics Laboratory, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.; Regional Center of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania., Stambouli D; Cytogenomic Medical Laboratory, 014453 Bucharest, Romania., Dimos L; Cytogenomic Medical Laboratory, 014453 Bucharest, Romania., Popescu-Hobeanu G; Human Genomics Laboratory, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania., Mihai I; Human Genomics Laboratory, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.; Regional Center of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania., Iliescu D; Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.

Publikováno v: Experimental and therapeutic medicine [Exp Ther Med] 2021 Apr; Vol. 21 (4), pp. 304. Date of Electronic Publication: 2021 Jan 29.