A de novo chromosome 9p duplication in a female child with short stature and developmental delay

Chromosome 9p duplication, also known as a partial trisomy 9p, is a rare chromosome abnormality due to a duplication of the partial short arm of chromosome 9. More than 200 cases are reported in the literature. Major clinical findings include short stature, developmental delay, intellectual disabili...

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Detalles Bibliográficos
Autores principales: Tkemaladze, Tinatin, Bregvadze, Kakha, Papiashvili, Nikoloz, Gagua, Sopio, Abzianidze, Elene
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10031590/
https://www.ncbi.nlm.nih.gov/pubmed/36968988
http://dx.doi.org/10.1177/2050313X231160883

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10031590/
https://www.ncbi.nlm.nih.gov/pubmed/36968988
http://dx.doi.org/10.1177/2050313X231160883

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