Prenatal diagnosis of distal Xq28 duplication syndrome: case reports and literature review

Abstract Background Xq28 duplications are a significant cause of X-linked intellectual disability (XLID). While the postnatal features of distal Xq28 duplication syndrome are well characterized, the prenatal phenotypes remain poorly defined due to limited data, posing challenges for genetic counseli...

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Prif Awduron:	Yuanyuan Zhang, Fagui Yue, Ruizhi Liu
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	BMC 2026-02-01
Cyfres:	Molecular Cytogenetics
Pynciau:	Xq28 duplications Prenatal diagnosis Chromosomal microarray analysis Prenatal phenotypes Genetic counseling
Mynediad Ar-lein:	https://doi.org/10.1186/s13039-026-00750-x
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