MOLECULAR CHARACTERIZATION OF CHROMOSOME 4P DELETIONS RESULTING IN WOLF-HIRSCHHORN SYNDROME
MOLECULAR CHARACTERIZATION OF CHROMOSOME 4P DELETIONS RESULTING IN WOLF-HIRSCHHORN SYNDROME
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DOI：
10.1136/jmg.31.2.103
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发表时间：
1994-02-01
影响因子：
4
通讯作者：
RAO, KW
中科院分区：
文献类型：
--
作者：
ESTABROOKS, LL;LAMB, AN;RAO, KW
我们提出了3例沃尔夫-赫希霍恩综合征与小细胞遗传学缺失的4p 16。一例是从头易位，两例代表从头缺失。使用分子技术，我们确定了这些缺失的程度，并试图确定父母的起源。病例1具有4p16.3的缺失，其中断点接近D4 S10，病例2具有包括4p16.2中的D4 S62的较大缺失，并且病例3具有包括D4 S240但不包括4p16.1中的Raf 2位点的最大缺失。病例3中缺失的父母来源是父亲;其他两例无法确定。我们的研究结果表明，这三个缺失包括目前提出的沃尔夫-赫希霍恩综合征的关键区域内的最远端2 Mb的4p16.3和连续末端缺失提供支持性证据。
We present three patients with Wolf-Hirschhorn syndrome with small cytogenetic deletions of 4p16. One case is a de novo translocation and two cases represent de novo deletions. Using molecular techniques we determined the extent of these deletions and attempted to ascertain parental origin. Case 1 had a deletion of 4p16.3 with a breakpoint proximal to D4S10, case 2 had a larger deletion including D4S62 in 4p16.2, and case 3 had the largest deletion which included D4S240, but not the Raf2 locus in 4p16.1. The parental origin of the deletion in case 3 was paternal; the other two cases were indeterminable. Our results show that these three deletions include the currently proposed Wolf-Hirschhorn syndrome critical region within the most distal 2 Mb of 4p16.3 and offer supportive evidence for continuous terminal deletions.