Brown S, Russo J, Chitayat D, Warburton D
Department of Obstetrics and Gynecology, Columbia University, New York, NY 10032, USA.
Am J Hum Genet. 1995 Oct;57(4):859-66.
Patients with interstitial deletions of the long arm of chromosome 13 may have widely varying phenotypes. From cytogenetic analysis, we have postulated that there is a discrete region in 13q32 where deletion leads to a syndrome of severe malformations, including digital and brain anomalies. To test this hypothesis at the molecular level, we have studied the deletions in 17 patients; 5 had severe malformations, while the remaining 12 had only minor malformations. Our results indicate that the deletions in the severely affected patients all involve an overlapping region in q32, while the deletions in the mildly affected patients include some, but not all, of this overlapping region. Our findings are consistent with the hypothesis that the severely malformed 13q- phenotype results from the deletion of a critical region in 13q32. This region is presently defined as lying between D13S136 and D13S147 and is on the order of 1 Mb in size.
13号染色体长臂间质缺失的患者可能具有广泛不同的表型。通过细胞遗传学分析，我们推测13q32存在一个离散区域，该区域的缺失会导致包括手指和脑部异常在内的严重畸形综合征。为了在分子水平上验证这一假设，我们研究了17例患者的缺失情况；其中5例有严重畸形，其余12例只有轻微畸形。我们的结果表明，严重受累患者的缺失均涉及q32的一个重叠区域，而轻度受累患者的缺失包括该重叠区域的一部分，但不是全部。我们的发现与以下假设一致，即严重畸形的13q-表型是由13q32关键区域的缺失导致的。该区域目前定义为位于D13S136和D13S147之间，大小约为1 Mb。
