Duplicação 22q11.2 e defeitos cardíacos congênitos

Rosa, Rafael Fabiano Machado; Zen, Paulo Ricardo Gazzola; Ricachinevsky, Cláudia Pires; Pilla, Carlo Benatti; Pereira, Vera Lúcia Berenstein; Roman, Tatiana; Varella-Garcia, Marilela; Paskulin, Giorgio Adriano

doi:10.1590/s0066-782x2009001000025

Cited by 9 publications

(2 citation statements)

References 9 publications

(34 reference statements)

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“…The recommendation for 22q11.2DS screening highlights that tests for the 22q11.2 chromosome microdeletion should be conducted in all newborns or children with tetralogy of Fallot, truncus arteriosus, interrupted aortic arch, isolated anomalies of the aortic arch and perimembranous ventricular septal defect with aortic arch anomaly. In all other patients with perimembranous ventricular septal defect without aortic arch anomaly or with any other type of CHD in association with characteristic phenotypic manifestations, clinical suspicion for 22q11.2DS should be raised and screening for the microdeletion should be conducted 3 , 6 , 22 , 25 .…”

Section: Discussionmentioning

confidence: 99%

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

Grassi¹,

Jacob²,

Kulikowski³

et al. 2014

Arquivos Brasileiros De Cardiologia

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BackgroundTo alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD).ObjectiveTo describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS.MethodsThe study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed.ResultsCHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients.ConclusionSuspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.

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Section: Discussionmentioning

confidence: 99%

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

Grassi¹,

Jacob²,

Kulikowski³

et al. 2014

Arquivos Brasileiros De Cardiologia

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“…Cardiac phenotype in 22q11.2 duplication syndrome is heterogeneous. Both conotruncal and other congenital cardiac anomalies have been reported in cases with 22q11.21 microduplication [10]. Narrow pulmonary trunk or pulmonary stenosis have not been reported previously.…”

Section: Discussionmentioning

confidence: 93%

Phenotypic Overlap of 22q11.2 Microduplication and Noonan Syndrome in a Fetus with Increased NT, Facial Dysmorphism, and Narrow Pulmonary Trunk

Nerakh

Shah

Seshan

et al. 2022

Journal of Fetal Medicine

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22q11.2 deletion syndrome is a common microdeletion syndrome with a prevalence of 1 in 2000-6000 live births. Clinical features include conotruncal congenital heart defect (CHD), characteristic facial features, neurodevelopmental delay, and immunological abnormalities. Microduplications of 22q11.2 are rare compared to deletions due to ill-defined variable phenotype. A few cases of 22q duplication have been identified in the prenatal period in fetuses with increased nuchal translucency (NT), cardiac anomalies, cleft palate and micrognathia. We report a case of a fetus with increased NT in ultrasound and facial dysmorphism, narrow pulmonary trunk on autopsy evaluation, diagnosed to have microduplication of 22q11.2.

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Chromosome 22q11.2 duplication is rare in a population‐based cohort of Danish children with cardiovascular malformations

Agergaard

Olesen

Østergaard

et al. 2012

American J of Med Genetics Pt A

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The prevalence of the 22q11.2 duplication is unknown in children with cardiovascular malformations (CVMs). As most individuals with the duplication are detected in the search for other conditions, especially the 22q11.2 deletion, CVMs associated with the duplication are subject to referral bias. We circumvented this bias by investigating the prevalence of the 22q11.2 duplication in a population-based cohort of children with CVMs. The study population was defined as children born in 2000-2008, who were registered in the Danish National Patient Registry with a diagnosis of CVM from one of the two national university departments of pediatric cardiology. Sensitive multiplex ligation-dependent probe amplification was performed on dried blood spot samples from each individual's neonatal screening test. The study population consisted of 2,952 children with CVMs, 2,424 of whom were eligible for genetic testing; 13 individuals (0.5% [0.3-0.9%]) carried the duplication. Nine individuals (69%) had not previously been tested for a copy number variation on chromosome 22q11.2 in the clinical setting for children with CVMs. We conclude that 22q11.2 duplication is rare in children with CVMs, and is primarily found in malformations that are also associated with the 22q11.2 deletion.

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Duplicação 22q11.2 e defeitos cardíacos congênitos

Cited by 9 publications

References 9 publications

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

Phenotypic Overlap of 22q11.2 Microduplication and Noonan Syndrome in a Fetus with Increased NT, Facial Dysmorphism, and Narrow Pulmonary Trunk

Chromosome 22q11.2 duplication is rare in a population‐based cohort of Danish children with cardiovascular malformations

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