Lurie I W, Supovitz K R, Rosenblum-Vos L S, Wulfsberg E A
Department of Pediatrics, University of Maryland at Baltimore School of Medicine.
Genet Couns. 1994;5(1):11-4.
An interstitial deletion of 2q22-q23 was found in a 2.5 year old boy with multiple congenital abnormalities (including Hirschsprung's disease) and severe mental retardation. Comparison with seven additional cases of 2q deletions from the literature does not allow the delineation of a clinically recognizable syndrome. Some of the previously reported patients had features rarely observed in chromosomal syndromes (i.e., occipital encephalocele and tracheo-esophageal fistula). Possible reasons for such phenotypic variability are briefly discussed.
在一名患有多种先天性异常（包括先天性巨结肠）和严重智力发育迟缓的2.5岁男孩中发现了2q22 - q23的间质缺失。与文献中另外7例2q缺失病例进行比较，无法明确界定出一种临床上可识别的综合征。一些先前报道的患者具有在染色体综合征中很少观察到的特征（即枕部脑膨出和气管食管瘘）。本文简要讨论了这种表型变异的可能原因。
