嵌合47,XY， + 8/46,XX:随访11年。

IF 0.4 Q4 PEDIATRICS

Journal of pediatric genetics Pub Date : 2023-03-01 DOI:10.1055/s-0040-1721440

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

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引用次数: 1

摘要

迄今为止，已报道了大约30例性染色体不一致嵌合体病例。特别是，很少有报道的嵌合涉及正常和异常谱系共存，每个谱系都携带不同的性染色体补体。据我们所知，这是首例同时发生染色体非整倍体的8号染色体性嵌合。这份报告代表了11年随访的数据。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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.

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来源期刊

Journal of pediatric genetics PEDIATRICS-

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期刊介绍： The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.