Zlotogora J
The Rosa and David Orzen Human Genetics Clinic, Department of Human Genetics, Hadassah Medical Center, Hebrew University, Jerusalem, Israel.
Am J Med Genet. 1997 Jul 11;71(1):33-5. doi: 10.1002/(sici)1096-8628(19970711)71:1<33::aid-ajmg6>3.0.co;2-r.
Congenital hydrocephalus and/or open neural tube defect was present in at least one individual of 98 families out of the 2,000 Palestinian Arabic families who have visited the Genetic clinic at the Hadassah Medical Center. In 22 families the brain malformation was part of a syndrome: Meckel syndrome in 10, Warburg syndrome in another 5, Carpenter in one, and undiagnosed in 6 families. In 76 of the families the neural tube defect and/or the hydrocephalus were non-syndromal. It seems that most of the cases of isolated non-syndromal hydrocephalus represented autosomal recessive traits and that an abnormal allele is common among Palestinian Muslim Arabs.
在前往哈达萨医疗中心基因诊所就诊的2000个巴勒斯坦阿拉伯家庭中,98个家庭中至少有一人患有先天性脑积水和/或开放性神经管缺陷。在22个家庭中,脑部畸形是综合征的一部分:10个家庭为梅克尔综合征,另外5个家庭为沃伯格综合征,1个家庭为卡彭特综合征,6个家庭未确诊。在76个家庭中,神经管缺陷和/或脑积水是非综合征性的。似乎大多数孤立的非综合征性脑积水病例表现为常染色体隐性性状,并且一个异常等位基因在巴勒斯坦穆斯林阿拉伯人中很常见。