PRELIMINARY DEFINITION OF A CRITICAL REGION OF CHROMOSOME-13 IN Q32 - REPORT OF 14 CASES WITH 13Q DELETIONS AND REVIEW OF THE LITERATURE
PRELIMINARY DEFINITION OF A CRITICAL REGION OF CHROMOSOME-13 IN Q32 - REPORT OF 14 CASES WITH 13Q DELETIONS AND REVIEW OF THE LITERATURE
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DOI：
10.1002/ajmg.1320450115
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发表时间：
1993-01-01
期刊：
影响因子：
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通讯作者：
WARBURTON, D
中科院分区：
文献类型：
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作者：
BROWN, S;GERSEN, S;WARBURTON, D
我们报告14例染色体13 q部分缺失。这些患者表现出广泛的表型。仅限于近端带q13-q31的缺失与生长迟缓有关，但与主要畸形无关。我们回顾了自1975年以来的文献，并总结了13 q缺失的情况下，有一个表型涉及一个或多个重大畸形和精神发育迟滞。对这些病例以及我们报告的病例的折点分析，支持这样的假设，即只有涉及q32带至少一部分的缺失与主要畸形和指端异常相关。有更多远端缺失的患者有严重的智力迟钝，但没有严重的畸形或生长迟缓。一组断点位于q32内的患者具有中间表型。这表明，它可能是可能的，以确定子区域内q32的缺失与特定的发育缺陷。
We report on 14 patients with partial deletions of chromosome 13q. These patients exhibit a wide spectrum of phenotypes. Deletions limited to proximal bands q13-q31 are associated with growth retardation but not with major malformations. We review the literature since 1975 and summarize 13q deletion cases which have a phenotype involving one or more major malformations and mental retardation. Analysis of the breakpoints of these cases, as well as those reported by us, supports the hypothesis that only deletions involving at least part of band q32 are associated with major malformations and digital abnormalities. Patients with more distal deletions have severe mental retardation but do not have major malformations or growth retardation. A group of patients in whom the breakpoint is stated to be within q32 has had an intermediate phenotype. This suggests that it may be possible to define subregions within q32 whose deletion is associated with particular developmental defects.