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.
Jazyk: angličtina
Zdroj: Experimental and therapeutic medicine [Exp Ther Med] 2021 Apr; Vol. 21 (4), pp. 304. Date of Electronic Publication: 2021 Jan 29.
DOI: 10.3892/etm.2021.9735
Abstrakt: Distal trisomy or duplication of 15q is a very rare chromosomal disorder; most of the previously reported cases were derived from unbalanced translocations involving chromosome 15 and another chromosome, whereas other mechanisms (e.g. duplication) have rarely been reported. We herein report a very rare prenatal case of a partial 15q trisomy, a 42.64-Mb duplication of 15q22.2-q26.3, arising from a maternal pericentric inversion of chromosome 15 (p11q22) that was not the result of an unbalanced translocation or duplication, and was not associated with concomitant partial monosomy. Fetal ultrasound revealed isolated thickened nuchal translucency at 12 weeks and multiple abnormalities in the second trimester, including early growth restriction, unilateral ventriculomegaly, narrow cavum septi pellucidi with hypoplasia of the corpus callosum, unilateral postaxial polydactyly, clenched hands and clubfoot with clawing of the toes, and a particular general dysplastic and hypotrophic aspect of the heart. The distinctive aspects of the present case may help to refine the phenotype associated with distal duplication 15q. To the best of our knowledge, this is the first report of a prenatal diagnosis with a 15q22.2-q26.3 duplication that did not result from an unbalanced translocation and did not have a concomitant monosomic component.
(Copyright: © Burada et al.)
Databáze: MEDLINE
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