velocardiofacial

The name velocardiofacial syndrome (VCFS) comes from the Latin words "velum" meaning palate, "cardia" meaning heart and "facies" having to do with the face.

Emaxhealth 2009

Chromosome 22q11. 2 deletion syndrome (DiGeorge and velocardiofacial syndromes).

Resources for Healthcare Professionals 2010

JRA-like polyarthritis in chromosome 22q11. 2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome).

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Recurrent 22q11. 2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome.

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The chromosome 22q11. 2 deletion — a genetic disorder at the root of syndromes such as DiGeorge and velocardiofacial — may cause a variety of health problems, ranging from heart defects and cleft palate to feeding difficulties, immune problems, a unique pattern of learning disabilities and more.

22q and You Center 2010

Immunologic features of chromosome 22q11. 2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

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Biased T-cell receptor repertoires in patients with chromosome 22q11. 2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

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Cerebellar atrophy in a patient with velocardiofacial syndrome.

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The 22q11. 2 deletion is the underlying cause of the medical problems associated with DiGeorge syndrome, velocardiofacial syndrome and conotruncal anomaly face syndrome, as well as some of the problems associated with Opitz G/BBB and Cayler cardiofacial syndromes.

Velocardiofacial, conotruncal anomaly face and Opitz G/BBB syndromes 2004

It also is known as DiGeorge syndrome, after the endocrinologist who first described four key features, and velocardiofacial syndrome, because of the heart/facial/oral/nasal cavity abnormalities.

PhysOrg.com - latest science and technology news stories 2010