Young R S, Shapiro S D, Hansen K L, Hine L K, Rainosek D E, Guerra F A
J Med Genet. 1983 Jun;20(3):199-202. doi: 10.1136/jmg.20.3.199.
We describe the clinical and cytogenetic findings of two patients with deletions of the long arm of chromosome 2. One has an interstitial deletion identical to that found in a previously reported patient, although they are phenotypically dissimilar. The other patient has a terminal deletion, the first such deletion reported to date.
我们描述了两名2号染色体长臂缺失患者的临床和细胞遗传学发现。其中一名患者的中间缺失与先前报道的一名患者相同,尽管他们的表型不同。另一名患者为末端缺失,这是迄今为止报道的首例此类缺失。