The 22q11.2 deletion: From diversity to a single gene theory
2001; Elsevier BV; Volume: 3; Issue: 1 Linguagem: Inglês
10.1097/00125817-200101000-00002
ISSN1530-0366
AutoresHendrik Decker, John Lawrenson,
Tópico(s)Tissue Engineering and Regenerative Medicine
ResumoAbstract The 22q11 deletion syndromes are a group of conditions in which a characteristic spectrum of congenital cardiac defects may be associated with a wide range of noncardiological congenital anomalies. These syndromes are all linked by a deletion in the long arm of chromosome 22. Although it is a large deletion, containing many genes, recent advances have led to the belief that the etiology of the diverse abnormalities of these syndromes may be a single gene deletion. This review outlines the historical development of the various "22q deletion syndromes," including the DiGeorge, velocardiofacial, Takao, Cayler, and CATCH-22 syndromes, briefly describes the relevant cardiac embryogenesis, and then explains how a single gene deletion may encompass the full phenotypic spectrum.
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