Phenotypic variations in X chromosome mutations: Two case reports

Turner syndrome (TS) affects 1 in 2500 females. Monosomy X is the most common etiology, classically presenting with hypoestrogenemia and short stature. We present two cases of partial X chromosome deletions that do not reflect the typical phenotype of TS. Patient 1 presented at age 17 with primary a...

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Detalles Bibliográficos
Autores principales: Dawkins, Josette C., Carpinello, Olivia, Hill, Micah, DeCherney, Alan H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305762/
https://www.ncbi.nlm.nih.gov/pubmed/30591909
http://dx.doi.org/10.1016/j.crwh.2018.e00084

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305762/
https://www.ncbi.nlm.nih.gov/pubmed/30591909
http://dx.doi.org/10.1016/j.crwh.2018.e00084

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