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Year : 2017  |  Volume : 1  |  Issue : 2  |  Page : 101-104

Current perspectives on velocardiofacial syndrome

1 Department of Zoology, Sri Venkateswara University, Tirupati, Andhra Pradesh, India
2 Division of Cancer Biology, Mitra RxDx Inc, Woburn, MA 01801, USA
3 Department of Molecular Genetics, Sickle Cell Institute Chhattisgarh, Raipur, Chhattisgarh, India

Correspondence Address:
Bhaskar V. K. S. Lakkakula
Sickle Cell Institute Chhattisgarh, Pt. JNM Medical College, Raipur, Chhattisgarh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/bbrj.bbrj_63_17

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Velocardiofacial syndrome (VCFS) is one of the most common genetic disorders that affect every major system in the body. The worldwide frequency of VCFS is 1 in 2000 live births. A search using the terms and variants of velo-cardio facial syndrome, VCFS, and disabilities within PubMed, Embase, and Scopus was carried out and restricted to human studies published in English. Further, reference lists were checked to identify relevant studies. The phenotypic spectrum of VCFS overlaps with that of DiGeorge syndrome and includes physical, cognitive, behavioral, and neurological disabilities. The VCFS is caused by hemizygous deletions on chromosome 22q11.2 and usually diagnosed at childhood. Several approaches, such as fluorescence in situ hybridization and polymerase chain reaction-based techniques, have been applied to analyze deleted regions. As majority of the VCFS children have multiple diagnoses, it may need more time to find appropriate combination of medications that will work for them. Treatment for VCFS is always depended on child's age, overall health, medical history, and child's tolerance for specific medications, procedures, or therapies, and parents' opinion or preference.

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