加贺美-绪方综合征中源自14号染色体的带有小标记染色体的父源14号染色体单亲二倍体。 - Suppr

Paternal UPD14 with sSMC derived from chromosome 14 in Kagami-Ogata syndrome.

作者信息

Wang Jiyong, Lichty Angie, Johnson Jill, Couick Chandler, Moore Mary Alice, Christensen Beth, Howard Khirston, Lee Jennifer A, DuPont Barbara R, Clarkson Lola, Hilton Benjamin A

机构信息

Greenwood Genetic Center, Greenwood Diagnostic Labs, Greenwood, SC, USA.

出版信息

Chromosome Res. 2023 Jan 19;31(1):1. doi: 10.1007/s10577-023-09712-0.

DOI:10.1007/s10577-023-09712-0

PMID:36656404

Abstract

摘要

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本文引用的文献

Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.

Hum Mol Genet. 2020 Sep 30;29(R1):R107-R116. doi: 10.1093/hmg/ddaa133.

Small Supernumerary Marker Chromosomes Arising From Partial Trisomy Rescue.

Front Genet. 2020 Feb 27;11:132. doi: 10.3389/fgene.2020.00132. eCollection 2020.

Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 associated with congenital hypoplasia of the tongue and review of the literature.

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Small Supernumerary Marker Chromosome May Provide Information on Dosage-insensitive Pericentric Regions in Human.

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Uniparental disomy and prenatal phenotype: Two case reports and review.

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Paternal UPD14 with sSMC derived from chromosome 14 in Kagami-Ogata syndrome.

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