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嵌合体47，XY，+8/46，XX：11年随访

Chimerism 47,XY, + 8/46,XX: Follow-up for 11 Years.

作者信息

de Carvalho Acácia Fernandes Lacerda, Pitanga Paula Monique Leite, Alves Esmeralda Santos, Miguel Diego Santana Chaves Geraldo, Santo Laila Damasceno Espirito, de Araújo Ana Eliete Fernandes, Ornellas Ana Carolina Pereira, Toralles Maria Betânia Pereira

机构信息

Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University of Bahia, Salvador, Bahia, Brazil.

DNA Laboratory - Laboratory Center for Genetics and Molecular Biology, Salvador, Bahia, Brazil.

出版信息

J Pediatr Genet. 2020 Dec 7;12(1):81-85. doi: 10.1055/s-0040-1721440. eCollection 2023 Mar.

DOI:10.1055/s-0040-1721440
PMID:36684553
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9848763/
Abstract

Approximately 30 sex chromosome discordant chimera cases have been reported to date. In particular, there are few reported cases of chimerism involving coexisting normal and abnormal lineages that each carries a distinct sex chromosome complement. To our knowledge, this is the first case of sexual chimerism with a simultaneous chromosomal aneuploidy involving chromosome 8. This report represents the data from 11 years of follow-up.

摘要

迄今为止，大约已报道了30例性染色体不一致的嵌合体病例。特别是，涉及共存的正常和异常谱系且每个谱系携带不同性染色体组成的嵌合体病例报道较少。据我们所知，这是首例同时存在涉及8号染色体的染色体非整倍体的性嵌合体病例。本报告展示了11年随访的数据。

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