Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome

Chromosomal abnormalities that result in genomic imbalances are a major cause of congenital and developmental anomalies. Partial duplication of chromosome 3q syndrome is a well-described condition, and the phenotypic manifestations include a characteristic facies, microcephaly, hirsutism, synophrys,...

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Detalles Bibliográficos
Autores principales: Abreu-González, M., García-Delgado, C., Cervantes, A., Aparicio-Onofre, A., Guevara-Yáñez, R., Sánchez-Urbina, R., Gallegos-Arreola, M. P., Luna-Angulo, A., Estrada, F. J., Morán-Barroso, V. F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3789327/
https://www.ncbi.nlm.nih.gov/pubmed/24151567
http://dx.doi.org/10.1155/2013/895259

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3789327/
https://www.ncbi.nlm.nih.gov/pubmed/24151567
http://dx.doi.org/10.1155/2013/895259

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