Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms
Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms
复制标题
威廉姆斯综合征和婴儿痉挛症患者 7q 染色体间质性缺失
作者：
K. Mizugishi;K. Yamanaka;K. Kuwajima;I. Kondo
应用细胞遗传学方法，在一名患有威廉姆斯综合征（WS）和婴儿痉挛症的4岁男童中发现了7q11.23-q21.11间质缺失。在该患者中发现了弹性蛋白（ELN）基因的缺失和D 7S 1870、D 7S 2490、D 7S 2518和D 7S 2421的DNA多态性标记，但D 7S 653和D 7S 675的位点不参与。Zackowski等人（1990）报道，16例7q11.2-q22间质性缺失患者中有6例出现异常脑电图或癫痫发作或两者兼有，6例患者中有2例出现婴儿痉挛。WS是一种明确定义的发育障碍，其特征在于独特的面部特征、合群的个性和先天性心脏缺陷。癫痫发作通常与这种综合征无关。WS通常以ELN和D 7S 1870的基因座缺失为特征，但不以D 7S 2490、D 7S 2518或D 7S 2421的基因座缺失为特征。这表明婴儿痉挛症的基因位于D 7S 1870和D 7S 675之间的2.7 cM间隔内。
AbstractInterstitial 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.
影响因子：
9.8
作者：
L. Jurado;R. Peoples;P. Kaplan;B. Hamel;U. Francke
通讯作者：
L. Jurado;R. Peoples;P. Kaplan;B. Hamel;U. Francke
删除%20的%20的%20弹性蛋白%20基因%20at%207q11.23%20发生在%20中的%20大约%2090%%20的%20患者%20患有%20Williams%20综合征。
影响因子：
9.8
作者：
Nickerson,E;Greenberg,F;Keating,MT;McCaskill,C;Shaffer,LG
通讯作者：
Shaffer,LG
复制因子 C 亚基 2 (RFC2) 基因位于 7q11.23 Williams 综合征缺失区域内。
影响因子：
9.8
作者：
Peoples,R;Perez-Jurado,L;Wang,YK;Kaplan,P;Francke,U
通讯作者：
Francke,U