Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil
| Autor: | Cláudia Fernandes Lorea, Bruna Lixinski Diniz, Juliana Alves Josahkian, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa, Janaína Huber, Andressa Schneiders Santos, Bruna Baierle Guaraná, Andressa Barreto Glaeser |
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| Rok vydání: | 2020 |
| Předmět: |
Aortic arch
medicine.medical_specialty Heart disease Persistent truncus arteriosus 03 medical and health sciences 0302 clinical medicine Bicuspid aortic valve 22q11 Deletion Syndrome medicine.artery Internal medicine Medicine cardiovascular diseases Genetics (clinical) Nose 0303 health sciences business.industry 030305 genetics & heredity medicine.disease Skull medicine.anatomical_structure Pulmonary valve Pediatrics Perinatology and Child Health Cardiology cardiovascular system business 030217 neurology & neurosurgery |
| Zdroj: | J Pediatr Genet |
| ISSN: | 2146-4596 |
| Popis: | 22q11.2 deletion syndrome (22q11.2DS) is considered one of the most frequently observed chromosomal abnormalities in association with congenital heart disease (CHD), which can also include some combination of other features. Thus, the aim of this work was to verify the profile of dysmorphic features and heart defects found in patients referred to a reference center in Southern Brazil with clinical findings suggestive of 22q11.2DS. In the overall sample group, only patients with dysmorphic facial features (skull, eyes, ear, and nose) associated with CHD (obstructive pulmonary valve ring, truncus arteriosus, and bicuspid aortic valve associated with atrial septal defect and/or right aortic arch) had a 22q11.2 deletion. These findings proved to be reliable clinical criteria for referral to perform fluorescent in situ hybridization investigation for 22q11.2 deletion. |
| Databáze: | OpenAIRE |
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