domingo, 7 de agosto de 2016

Cytogenomic Aberrations in Congenital Cardiovascular Malformations. - PubMed - NCBI

Cytogenomic Aberrations in Congenital Cardiovascular Malformations. - PubMed - NCBI

 2016 May;7(2):51-61. doi: 10.1159/000445788. Epub 2016 Apr 26.

Cytogenomic Aberrations in Congenital Cardiovascular Malformations.


Congenital cardiovascular malformations are the most common birth defects, with a complex multifactorial etiology. Genetic factors play an important role, illuminated by numerous cytogenetically visible abnormalities, as well as submicroscopic genomic imbalances affecting critical genomic regions in the affected individuals. Study of rare families with Mendelian forms, as well as emerging next-generation sequencing technologies have uncovered a multitude of genes relevant for human congenital cardiac diseases. It is clear that the complex embryology of human cardiac development, with an orchestrated interplay of transcription factors, chromatin regulators, and signal transduction pathway molecules can be easily perturbed by genomic imbalances affecting dosage-sensitive regions. This review focuses on chromosomal abnormalities contributing to congenital heart diseases and underscores several genomic disorders linked to human cardiac malformations in the last few decades.


Aneuploidies; Congenital cardiovascular malformations; Cytogenomic abberations

 [Available on 2016-11-01]

Free full text

Public Health Genomics Knowledge Base (v1.2)

Genomics & Health Impact Update banner with DNA in background

August 4-11, 2016 

 congenital heart defect awareness ribbon


Last Updated: Aug 04, 2016

CDC Resources with and image of DNA

Seletced Insights & Reviews with various images of researchers in labortory environments

Epidemiology with an image of a crowd of people with a double helix

Translational Research with two images of people talking to a genetic counselor and an image of a hand with wrapped sequecing around it

Evidence Synthesis with an image of sequencing and a double helix

Practice & Implementation with images of people taking to a doctor and a nurse examining a child

Relevant Resources

No hay comentarios:

Publicar un comentario