Molecular cytogenetic characterization of a de novo derivative chromosome X with an unbalanced t(X;9) translocation in a fetus and literature review

Molecular cytogenetic characterization of a de novo derivative chromosome X with an unbalanced t(X;9) translocation in a fetus and literature review

Abstract Partial trisomy 9p is one of the most frequent autosome anomalies in newborn infants featured by craniofacial dysmorphism, intellectual disability and psychomotor growth. Female patients carrying monosomy Xq usually show mild symptoms due to skewed X-chromosome inactivation (XCI). Unbalance...

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Bibliographic Details
Main Authors: Qiong Wu, Hui Kong, Yanyan Shen, Jing Chen
Format: Article
Language:English
Published: BMC 2022-06-01
Series:Molecular Cytogenetics
Subjects:
Derivative X chromosome
Copy number variation sequencing (CNV-seq)
Fluorescence in situ hybridization (FISH)
X-chromosome inactivation (XCI)
Online Access:https://doi.org/10.1186/s13039-022-00603-3

Internet

https://doi.org/10.1186/s13039-022-00603-3

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