Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome

We report a detailed phenotypic, cytogenetic and molecular characterization of a patient prenatally diagnosed with Turner syndrome (TS). In addition to having typical TS clinical characteristics including webbed neck, high arched palate and coarctation of the aorta, the patient had features less fre...

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Detalles Bibliográficos
Autores principales: Siller, Alejandro F., Shimony, Alex, Shinawi, Marwan, Amarillo, Ina, Dehner, Louis P., Semenkovich, Katherine, Arbeláez, Ana María
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398186/
https://www.ncbi.nlm.nih.gov/pubmed/29739732
http://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398186/
https://www.ncbi.nlm.nih.gov/pubmed/29739732
http://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0005

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