Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17.
Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17.
复制标题
与 17 号染色体着丝粒倒位相关的家族性 Miller-Dieker 综合征。
DOI：
10.1002/ajmg.1320230402
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发表时间：
1986
期刊：
影响因子：
--
通讯作者：
D. Ledbetter
中科院分区：
文献类型：
--
作者：
F. Greenberg;R. Stratton;L. Lockhart;F. Elder;W. Dobyns;D. Ledbetter
近年来研究表明，大多数Miller-Dieker综合征（MDS）是由17p13.3缺失引起的。所有家族性病例均与携带者父母的平衡相互易位和受影响后代的不平衡易位有关。我们报告一个新的情况下，家族性骨髓增生异常综合征的母亲进行臂间倒位染色体17。她有两个患有MDS的孩子，其中一个被证明携带由dup（17 q）和del（17 p）组成的重组17。家族性MDS的高发病率及其与父母之一染色体平衡重排的一致性，使得对所有MDS患者和可能所有无脑畸形患者进行高分辨率染色体分析变得非常重要。发现一个家族性平衡重排使产前诊断这种情况是可行的。
Recently it has been shown that most cases of the Miller-Dieker syndrome (MDS) are caused by deletion 17p13.3. All familial cases have been associated with a balanced reciprocal translocation in a carrier parent and unbalanced translocations in their affected offspring. We report a new case of familial MDS in whom the mother carries a pericentric inversion of chromosome 17. She has had two children with MDS, one of whom was shown to carry a recombinant 17 consisting of dup(17q) and del(17p). The high frequency of familial MDS and its consistent association with balanced chromosomal rearrangements in one of the parents makes it important to do high-resolution chromosome analysis on all patients with MDS and possibly all patients with lissencephaly. Finding a familial balanced rearrangement makes prenatal diagnosis of this condition feasible.