Alla P, Philip N, Azulay J P, Attarian S, Pouget J
Service de Neurologie et maladies neuro-musculaires, Hôpital de la Timone, Marseille.
Rev Neurol (Paris). 1999 Nov;155(11):967-70.
Chromosome 22q11 deletion is a frequent genetic anomaly, recently discovered, responsible for DiGeorge syndrome and velo-cardio-facial syndrome. The spectrum of clinical features is large: dysmorphic syndrome, mental delay, conotroncal cardiopathy; neurologic manifestations are not rare. Case report is a 28 year old man who presented a symptomatic epilepsy caused by stroke, associated with conotroncal cardiopathy, mental delay, hypocalcemia and facial dysmorphy. A cytogenetic study confirmed the chromosome 22q11 deletion.
22号染色体q11缺失是一种常见的基因异常,最近才被发现,它是导致迪格奥尔格综合征和心脏颜面综合征的原因。临床特征范围广泛:畸形综合征、智力发育迟缓、圆锥干型心脏病;神经系统表现并不罕见。病例报告是一名28岁男性,他患有由中风引起的症状性癫痫,伴有圆锥干型心脏病、智力发育迟缓、低钙血症和面部畸形。细胞遗传学研究证实了22号染色体q11缺失。