scholarly journals Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome

2018 ◽  
Vol 176 (10) ◽  
pp. 2099-2103 ◽  
Author(s):  
Arpana Rayannavar ◽  
Lorraine E. Levitt Katz ◽  
Terrence Blaine Crowley ◽  
Megan Lessig ◽  
Katheryn Grand ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

scholarly journals Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome

2014 ◽  
Vol 57 (1) ◽  
pp. 11 ◽  
Author(s):  
Mi-Young Lee ◽  
Hye-Sung Won ◽  
Ju Won Baek ◽  
Jae-Hyun Cho ◽  
Jae-Yoon Shim ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

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

2009 ◽  
Vol 51 (9) ◽  
pp. 746-753 ◽  
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

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

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.

scholarly journals Complex Congenital Heart Disease in Unaffected Relatives of Adults With 22q11.2 Deletion Syndrome

2011 ◽  
Vol 107 (3) ◽  
pp. 466-471 ◽  
Author(s):  
Jodi-Ann M. Swaby ◽  
Candice K. Silversides ◽  
Sean C. Bekeschus ◽  
Sara Piran ◽  
Erwin N. Oechslin ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Complex Congenital Heart Disease ◽  
22Q11.2 Deletion
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