Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency

BACKGROUND: Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, and a wide range of physical findings. Female carriers usually have no clinical phenotype. Occasionally, they may also have heterogeneous features due to n...

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Detalles Bibliográficos
Autores principales: Qin, Shengfang, Zeng, Jiuzhi, Wang, Jin, Ye, Mengling, Deng, Qin, Wang, Xueyan, Zhang, Zhuo, Yi, Dangying, Wu, Yang, Li-Ling, Jesse
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10685508/
https://www.ncbi.nlm.nih.gov/pubmed/38031145
http://dx.doi.org/10.1186/s13039-023-00663-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10685508/
https://www.ncbi.nlm.nih.gov/pubmed/38031145
http://dx.doi.org/10.1186/s13039-023-00663-z

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