De Decker H P, Lawrenson J B
Department of Cardiology, Red Cross War Memorial Children's Hospital, Cape Town, South Africa.
Genet Med. 2001 Jan-Feb;3(1):2-5. doi: 10.1097/00125817-200101000-00002.
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.
22q11缺失综合征是一组病症，其中先天性心脏缺陷的特征谱可能与多种非心脏先天性异常相关。这些综合征都与22号染色体长臂的缺失有关。尽管这是一个大的缺失，包含许多基因，但最近的进展使人们相信，这些综合征各种异常的病因可能是单个基因的缺失。本综述概述了各种“22q缺失综合征”的历史发展，包括迪格奥尔格综合征、腭心面综合征、高尾综合征、凯勒综合征和CATCH-22综合征，简要描述了相关的心脏胚胎发育，然后解释了单个基因缺失如何涵盖完整的表型谱。
