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Three-Year Follow-Up of a Prenatally Ascertained Apparently Non-Mosaic sSMC(10): Delineation of a Non-Critical Region.

作者信息

Barranco Laura, Costa Marta, Lloveras Elisabet, Ordóñez Elena, Maiz Nerea, Hernando Cristina, Villa Olaya, Cirigliano Vincenzo, Plaja Alberto

机构信息

Departament de Citogenx00E8;tica, LABCO Diagnostics Iberia, Esplugues de Llobregat, Spain.

出版信息

Cytogenet Genome Res. 2015;147(4):209-11. doi: 10.1159/000444600. Epub 2016 Mar 15.

DOI:10.1159/000444600
PMID:26974471
Abstract

Small supernumerary marker chromosomes (sSMC) originating from chromosome 10 are rare and usually found in mosaic form. We present a de novo apparently non-mosaic sSMC(10) prenatally diagnosed in amniotic fluid and postnatally confirmed in peripheral blood. Characterization by array-CGH showed a pericentromeric duplication of 7.1 Mb of chromosome 10. The fetus did not show ultrasound abnormalities, and a normal female phenotype was observed during a 3-year postnatal follow-up. The absence of phenotypic abnormalities in the present case provides evidence of a non-critical pericentromeric region in 10p11.21q11.1 (hg19 35,355,570-42,448,569) associated with a duplication.

摘要

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Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype.与正常表型相关的10p11.23q11.21重复的产前诊断和遗传咨询
Mol Cytogenet. 2022 Jun 3;15(1):21. doi: 10.1186/s13039-022-00598-x.