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

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). Unbalanced translo...

Descripción completa

Detalles Bibliográficos
Autores principales: Wu, Qiong, Kong, Hui, Shen, Yanyan, Chen, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235249/
https://www.ncbi.nlm.nih.gov/pubmed/35761368
http://dx.doi.org/10.1186/s13039-022-00603-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235249/
https://www.ncbi.nlm.nih.gov/pubmed/35761368
http://dx.doi.org/10.1186/s13039-022-00603-3

Ejemplares similares