Mizugishi K, Yamanaka K, Kuwajima K, Kondo I
Department of Pediatrics, Ibaraki Handicapped Children's Hospital, Japan.
J Hum Genet. 1998;43(3):178-81. doi: 10.1007/s100380050064.
Interstitial deletion of 7q11.23-q21.11 was identified by cytogenetic methods in a 4-year-old boy with Williams syndrome (WS) and infantile spasms. Deletion of the elastin (ELN) gene and the DNA polymorphic markers, D7S1870, D7S2490, D7S2518, and D7S2421, were identified in the patient, but the loci for D7S653 and D7S675 were not involved. Zackowski et al. (1990) reported that 6 of 16 patients with the interstitial deletion of 7q11.2-q22 had abnormal electro encephalograms, or seizures, or both, and that infantile spasms were present in 2 of the 6 patients. WS is a well defined developmental disorder characterized by distinct facial features, gregarious personality, and congenital heart defects. Seizures are not generally associated with this syndrome. WS commonly is characterized by deletion of the loci for ELN and D7S1870, but not those for D7S2490, D7S2518, or D7S2421. This suggests that a gene responsible for infantile spasms is located in the 2.7-cM interval between loci D7S1870 and D7S675.
通过细胞遗传学方法，在一名患有威廉姆斯综合征（WS）和婴儿痉挛症的4岁男孩中发现了7q11.23 - q21.11的间质缺失。在该患者中鉴定出了弹性蛋白（ELN）基因以及DNA多态性标记D7S1870、D7S2490、D7S2518和D7S2421的缺失，但D7S653和D7S675的基因座未受影响。扎科夫斯基等人（1990年）报告称，16例7q11.2 - q22间质缺失患者中有6例脑电图异常，或有癫痫发作，或两者皆有，且6例患者中有2例出现婴儿痉挛症。WS是一种明确的发育障碍，其特征为独特的面部特征、合群的性格和先天性心脏缺陷。癫痫发作通常与该综合征无关。WS通常的特征是ELN和D7S1870基因座缺失，但D7S2490、D7S2518或D7S2421基因座未缺失。这表明负责婴儿痉挛症的基因位于基因座D7S1870和D7S675之间2.7厘摩的区间内。
