Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review

Abstract Background Copy number variation (CNV) of X chromosome can lead to a variety of neonatal abnormalities, especially for male fetuses. In recent years, due to the high sensitivity and high specificity of NIPS, its application has gradually expanded from chromosome aneuploidy to CNV. Few prena...

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Главные авторы:	Qing Lin, Chunya Liang, Bole Du, Lijiao Li, Hong Li, Xiaolan Mai, Sheng Li, Wenyu Xu, Cunzhen Wu, Mi Zeng
Формат:	Artigo
Язык:	Inglês
Опубликовано:	BMC 2024-02-01
Серии:	BMC Medical Genomics
Предметы:	Noninvasive prenatal screening Prenatal diagnosis Chromosome microarray analysis Xp22.33p22.32 deletion Xq27.1q28 duplication
Online-ссылка:	https://doi.org/10.1186/s12920-024-01824-8
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