Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790

All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.

Iurian S Author

Subjects of specialization
FISH; ,DGS; ,WBS; ,CHD

Affiliation
Lucian Blaga University, Pediatric Clinic Hospital, Sibiu

Biography

Im lurian Lucian Blaga University, Pediatric Clinic Hospital, Sibiu Lucian Blaga University, Pediatric Clinic Hospital, Sibiu,Iuliu Hatieganu University of Medicine and Pharmacy, Romania,Center of Genetic Diseases, Emergency Children?s Hospital, Romania,Lucian Blaga University, Pediatric Clinic Hospital, Sibiu

Publications

Research Article Subscription

Chromosome 22q11.2 and 7q11.23 Microdeletions in Children with Congenital Heart Defects Detected by Fish Technique

Author(s):

Mirea AM, Popp RA, Lazea C, Cuzmici Z, Al Khzouz C, Bucerzan S, Nascu, Man S, Iurian S, Miclea DL

Congenital heart defects (CHD) are the most common birth abnormalities and the leading non-infectious cause of mortality in infants. CHD may occur as a single abnormality or as part of a syndrome. Two of the associated syndromes are DiGeorge and Williams-Beuren. DiGeorge (DGS) syndrome is a variant of 22q11.2 microdeletion syndrome and is known as CATCH22 syndrome (cardiac abnormalities, anomalies of the face, thymus hypoplasia, cleft-palate and hypocalcemia). The most associated CHD are conotruncal defects. Williams-Beuren syndrome (WBS) is also a microdeletional syndrome characterised by CHD, facial abnormalities, neonatal hypocalcemia, neurological and behavioural disorders. The most associated CHD are the supravalvular aortic stenosis and supravalvular p... view more»

DOI: 10.4172/2327-5790.1000142

Abstract HTML PDF

Google Scholars / Researchers Sites

Explore SciTechnol

GET THE APP