一名女性患者诊断为12号染色体嵌合三体：临床特征、基因分析及文献复习 - Suppr

Mosaic trisomy 12 diagnosed in a female patient: clinical features, genetic analysis, and review of the literature.

作者信息

Hainz Daniela, Krüger Marcus, Reber Daniela, Mehnert Karl, Brunet Theresa, Lederer Gabriele, Langer-Freitag Sabine, Hoefele Julia

机构信息

Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.

Department of Neonatology, Schwabing Hospital, School of Medicine, Technical University of Munich, Munich, Germany.

出版信息

World J Pediatr. 2021 Aug;17(4):438-448. doi: 10.1007/s12519-021-00438-9. Epub 2021 Jul 14.

DOI:10.1007/s12519-021-00438-9

PMID:34260009

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8363535/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/21b0/8363535/ec868f7bb23a/12519_2021_438_Fig1_HTML.jpg

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Mosaic trisomy 12 diagnosed in a female patient: clinical features, genetic analysis, and review of the literature.

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