Abstract
Background Di-George Syndrome (DGS) is known as 22q11.2 deletion syndrome. It is a genetic disorder that is being recognized with increasing frequency with a documented incidence of approximately 1 in 4000 and is the most common human deletion syndrome, typically present early in life and is rarely appearing in adult patients (1). Micro-deletion of chromosome 22q11.2 is one of the most clinically variable syndromes, with more than 180 features associated with the deletion. The syndrome is caused by genetic deletions (loss of a small part of the genetic material) found on one of the two 22nd chromosomes (2). Very rarely, patients with similar clinical features may have deletions on the chromosome 10. An accurate diagnosis is needed for the proper management of affected cases. Diagnosis relies on conventional cytogenetic and Fluorescent In Situ Hybridization (FISH) techniques. The newly developed technique, array Comparative Genomic Hybridization (aCGH), allows
Highlights
Di-George Syndrome (DGS) is known as 22q11.2 deletion syndrome
Materials and methods The study included 30 suspected DGS patients depending on their symptoms, referred to the details 1Diagnostic Genomic Medicine Unit (DGMU) for genetic diagnosis
Cytogenetic technique could detect the 22q11.2 deletion in 1/30 patients, other chromosomal aberrations were detected in three patients (48,XXXX/ 46,XX,del(18) (p11.2)/ 47,XX,+18)
Summary
It is a genetic disorder that is being recognized with increasing frequency with a documented incidence of approximately 1 in 4000 and is the most common human deletion syndrome, typically present early in life and is rarely appearing in adult patients (1). Micro-deletion of chromosome 22q11.2 is one of the most clinically variable syndromes, with more than 180 features associated with the deletion. The syndrome is caused by genetic deletions (loss of a small part of the genetic material) found on one of the two 22nd chromosomes (2). Patients with similar clinical features may have deletions on the chromosome 10. An accurate diagnosis is needed for the proper management of affected cases. Diagnosis relies on conventional cytogenetic and Fluorescent In Situ Hybridization (FISH) techniques. The newly developed technique, array Comparative Genomic Hybridization (aCGH), allows
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
