The timely diagnosis of 49, XXXXY with the combined detection of MLPA, karyotype, and QF-PCR in a newborn with multiple congenital malformations: a case report

BACKGROUND: 49, XXXXY is a rare sex chromosomal aneuploidy syndrome. The patients usually are diagnosed several months or years after birth. Herein a neonate with respiratory distress and multiple malformations was diagnosed with 49, XXXXY syndrome by an economical method of multiplex ligation-depen...

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Detalles Bibliográficos
Autores principales: Tian, Baodong, Chen, Lijie, Wang, Wenjuan, Tang, Ying, Yu, Donglan, Zhou, Yong, Wang, Guangli, Xia, Yang, Zhu, Chunjiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9986774/
https://www.ncbi.nlm.nih.gov/pubmed/36891370
http://dx.doi.org/10.21037/tp-23-23

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