Unusual Trisomy X Phenotype Associated with a Concurrent Heterozygous 16p11.2 Deletion: Importance of an Integral Approach for Proper Diagnosis

Trisomy X is the most frequent sex chromosome anomaly in women, but it is often underdiagnosed postnatally because most patients do not show any clinical manifestation. It is estimated that only 10% of patients with trisomy X are diagnosed by clinical findings. Thus, it has been proposed that the cl...

Descripción completa

Detalles Bibliográficos
Autores principales: González-del Angel, Ariadna, Alcántara-Ortigoza, Miguel Angel, Ramos, Sandra, Algara-Ramírez, Carolina, Hernández-Hernández, Marco Antonio, Saenger-Rivas, Lorenza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10572219/
https://www.ncbi.nlm.nih.gov/pubmed/37834089
http://dx.doi.org/10.3390/ijms241914643

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10572219/
https://www.ncbi.nlm.nih.gov/pubmed/37834089
http://dx.doi.org/10.3390/ijms241914643

Ejemplares similares