DiGeorge syndrome (DGS) comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies. It results in almost all cases. DiGeorge Syndrome is a primary immunodeficiency disease caused by abnormal migration and development of certain cells and tissues during fetal.
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DiGeorge syndrome DGS comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies.
It results in almost all cases from a deletion within chromosome 22q We report the clinical findings in 44 cases. We propose that DiGeorge syndrome should be seen as the severe end of the clinical spectrum embraced by the acronym CATCH 22 syndrome; Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions.
National Center sendrlmu Biotechnology InformationU. Journal List J Med Genet v.
DiGeorge syndrome: part of CATCH
Author information Copyright and License information Disclaimer. This article has been cited by other articles in PMC. Abstract DiGeorge syndrome DGS comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies.
Images in this article Image on p. A deletion in chromosome 22 can cause DiGeorge syndrome. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.
DiGeorge syndrome (22q deletion syndrome) – Symptoms and causes – Mayo Clinic
A genetic etiology for DiGeorge syndrome: Am J Hum Genet. Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome.
Noonan’s and DiGeorge syndromes with monosomy 22q DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin. Spectrum of Di George syndrome in patients with truncus arteriosus: Truncus arteriosus and facial dysmorphism.
A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Deletions within chromosome 22q11 in familial congenital heart disease.
Deletions and microdeletions of 22q Am J Med Genet. Associated Data Supplementary Materials.