一项对36例迪格奥尔格综合征患者的前瞻性细胞遗传学研究。
A prospective cytogenetic study of 36 cases of DiGeorge syndrome.
作者信息
Wilson D I, Cross I E, Goodship J A, Brown J, Scambler P J, Bain H H, Taylor J F, Walsh K, Bankier A, Burn J
机构信息
Division of Human Genetics, University of Newcastle upon Tyne, U.K.
出版信息
Am J Hum Genet. 1992 Nov;51(5):957-63.
Cytogenetic analysis was carried out in a prospective series of 36 children with DiGeorge syndrome. High-resolution banding (> 850 bands/haploid set) was achieved in 30 cases. Monosomy 22q11.21-->q11.23 was found in 9 of these 30 cases. In each of these cases monosomy 22q11.21-->q11.23 resulted from an interstitial deletion and not from a translocation. No other chromosome abnormalities were seen.
对36例患有DiGeorge综合征的儿童进行了前瞻性细胞遗传学分析。30例实现了高分辨率显带（>850条带/单倍体组）。在这30例中的9例发现了22q11.21→q11.23单体。在这些病例中，每一例22q11.21→q11.23单体均由中间缺失导致，而非易位所致。未发现其他染色体异常。
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