AB061. Prevalence of 22q11.2 deletion syndrome in patients with congenital heart diseases in North-eastern Thailand

Abstract Background Chromosome 1p36 deletion syndrome is a contiguous genetic disorder with multiple congenital anomalies and mental retardation. It has been emerging as one of the most common terminal deletion syndromes in humans with the rapid utility of microarray analysis. However, the prenatal findings of 1p36 deletion syndrome are still limited. We report a fetus with 1p36 deletion and cardiac phenotype of dextrocardia, combined with a balanced translocation between chromosome 5 and 6. The phenotype of dextrocardia is rarely reported in prenatal 1p36 deletion cases. Case presentation We present a prenatal 1p36 deletion case with congenital heart diseases and single umbilical artery. Fetal echocardiography showed dextrocardia, ventricular septal defect and pericardial effusion. Fetal karyotype revealed a de novo balanced translocation of 46,XY,t(5;6)(q11.2;q23.3). Chromosomal microarray analysis detected a pathogenic deletion in 1p36.21p36.12, with the size of 6.38 Mb. Further whole genome sequencing revealed that the balanced translocation disrupted the EYA4 and ITGA1 genes. Conclusions Although congenital heart diseases are very common clinical manifestations among patients with 1p36 deletion, dextrocardia is a quite rare cardiac phenotype. This is the second case with 1p36 deletion and dextrocardia, and the first prenatally diagnosed 1p36 deletion case with dextrocardia. Our case indicates that genes in 1p36 are associated with not only heart structural anomalies, but also cardiac laterality development. Our results also imply that the EYA4 gene disrupted by the balanced translocation might be related with the cardiac development.

Download Full-text

Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil

Journal of Pediatric Genetics ◽

10.1055/s-0040-1713155 ◽

2020 ◽

Vol 09 (04) ◽

pp. 227-234

Author(s):

Bruna Lixinski Diniz ◽

Andressa Schneiders Santos ◽

Andressa Barreto Glaeser ◽

Bruna Baierle Guaraná ◽

Cláudia Fernandes Lorea ◽

...

Keyword(s):

Congenital Heart ◽

Chromosomal Abnormalities ◽

Heart Defects ◽

22Q11.2 Deletion Syndrome ◽

Clinical Findings ◽

Deletion Syndrome ◽

Facial Features ◽

Southern Brazil ◽

22Q11.2 Deletion ◽

Clinical Criteria

Abstract22q11.2 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.

Download Full-text

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Human Genetics ◽

10.1007/s00439-015-1623-9 ◽

2016 ◽

Vol 135 (3) ◽

pp. 273-285 ◽

Cited By ~ 24

Author(s):

Elisabeth E. Mlynarski ◽

◽

Michael Xie ◽

Deanne Taylor ◽

Molly B. Sheridan ◽

...

Keyword(s):

Congenital Heart Defects ◽

Copy Number ◽

Congenital Heart ◽

Heart Defects ◽

Copy Number Variants ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion

Download Full-text

Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome

American Journal of Medical Genetics Part B Neuropsychiatric Genetics ◽

10.1002/ajmg.b.32215 ◽

2013 ◽

Vol 165 (2) ◽

pp. 137-147 ◽

Cited By ~ 12

Author(s):

James J. Yi ◽

Sunny X. Tang ◽

Donna M. McDonald-McGinn ◽

Monica E. Calkins ◽

Daneen A. Whinna ◽

...

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Congenital Heart ◽

22Q11.2 Deletion Syndrome ◽

School Age Children ◽

Deletion Syndrome ◽

School Age ◽

22Q11.2 Deletion ◽

Neuropsychiatric Outcome

Download Full-text

Congenital heart disease affects local gyrification in 22q11.2 deletion syndrome

Developmental Medicine & Child Neurology ◽

10.1111/j.1469-8749.2009.03281.x ◽

2009 ◽

Vol 51 (9) ◽

pp. 746-753 ◽

Cited By ~ 45

Author(s):

MARIE SCHAER ◽

BRONWYN GLASER ◽

MERITXELL BACH CUADRA ◽

MARTIN DEBBANE ◽

JEAN-PHILIPPE THIRAN ◽

...

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Congenital Heart ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion

Download Full-text

Diagnosis of 22q11.2 Deletion Syndrome in a Child With Congenital Heart Disease and Facial Dimorphism: A Case Report

ACTA MEDICA IRANICA ◽

10.18502/acta.v59i4.6224 ◽

2021 ◽

Author(s):

Natalia Dayane Moura Carvalho ◽

Ronaldo Castillo Camargo ◽

Heliana Maria Costa Garcia ◽

Suely Regina da Silva Teles ◽

Cleiton Fantin

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Congenital Heart ◽

22Q11.2 Deletion Syndrome ◽

University Hospital ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Patient Reported ◽

History Of ◽

Low Copy Repeats

22q11.2 deletion syndrome is caused by a deletion in chromosome 22q11.2 and has more than 180 distinct phenotypes; however, no finding is pathognomonic or even mandatory. This syndrome can be diagnosed by fluorescence in situ hybridization. Thus, we report herein a patient from Manaus, Brazil, who has congenital heart disease and facial dimorphism with the presence of 22q11.2 deletion in the N25 region. Male patient, a 1-year-old son of non-consanguineous parents and without a family history of genetic disease. The patient was hospitalized in the cardiac intensive care unit of the Francisca Mendes University Hospital for surgery. The patient was diagnosed with interventricular communication, low atrial implantation, hypertelorism, and macroglossia. The FISH result revealed the presence of a proximal deletion in the N25 region (22q11.2) in only one of the pairs in chromosome 22. This finding revealed a diagnosis of 22q11.2 deletion syndrome, in other words, a hemizygotes deletion with haploinsufficiency of the CLTCL1 gene in this region. However, it is valid to say that the CLTCL1 gene is related to the clinical picture of the patient reported in this study. Cytogenetic analysis was essential for the etiological diagnosis and revealed 22q11.2 deletion in the N25 region, which resulted in 22q11.2 deletion syndrome. The importance of diagnosing this syndrome lies in the best therapeutic conduct, thus allowing a better quality of life for the patient and adequate genetic counseling. Other cytogenetic studies are essential in order to elucidate the size of the deletion and low copy repeats involved in this deletion.

Download Full-text