45,X male – rare case of unbalanced translocation of Y chromosome to chromosome 2 presenting with developmental delay, learning difficulty and obesity

SUMMARY: A male phenotype accompanied by a 45,X karyotype is rare. It may occur due to Y chromosomal translocation or insertion to X/autosome. Clinical presentation may vary depending on the presence of the Y chromosomal locus and the degree of loss of autosome material. 45,X males can present with...

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Detalles Bibliográficos
Autores principales: Suntharesan, Jananie, Apperley, Louise, Senniappan, Senthil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2022
Materias:
New Disease or Syndrome: Presentations/Diagnosis/Management
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9716403/
https://www.ncbi.nlm.nih.gov/pubmed/36515368
http://dx.doi.org/10.1530/EDM-22-0320

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9716403/
https://www.ncbi.nlm.nih.gov/pubmed/36515368
http://dx.doi.org/10.1530/EDM-22-0320

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