Familial 14.5 Mb Interstitial Deletion 13q21.1-13q21.33: Clinical and Array-CGH Study Three-Generation Family
Familial 14.5 Mb Interstitial Deletion 13q21.1-13q21.33: Clinical and Array-CGH Study Three-Generation Family
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DOI：
10.1002/ajmg.a.32622
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发表时间：
2009-02-01
影响因子：
2
通讯作者：
Miny, Peter
中科院分区：
文献类型：
--
作者：
Filges, Isabel;Roethlisberger, Benno;Miny, Peter
我们报告了临床和细胞遗传学的发现，以及基于阵列的间质性家族性13q21缺失的特征，最初由标准核型识别。虽然已知13q缺失意味着临床后果的广泛变异性，但三代家族性缺失的缺失携带者并未显示出相关的表型。通过分子核型分析确定了三个携带者的断点和缺失大小，证实了一个14.5 Mb的大缺失，包括13q21.1-13q21.33区域，在所有三个携带者中相同。基因缺乏和缺乏剂量敏感基因在划定的区域可能解释了这种染色体异常的明显无害的性质。这个家族的例子为描述染色体区域13q21.1-13q21.33提供了证据，证明它是一个大的常染色质变异或良性拷贝数变异，没有表型后果。我们的数据强调了结合临床和实验室证据的表型遗传学方法在解释染色体节段性异常的重要性，特别是在与产前诊断相关的遗传咨询中。(c) 2009 Wiley-Liss, Inc。
We report on the clinical and cytogenetic findings as well as the array-based characterization of an interstitial familial 13q21 deletion initially recognized by standard karyotyping. Although 13q deletions are known to imply a wide variability of clinical consequences, the deletion carriers of the familial deletion in three generations did not reveal a relevant phenotype. The breakpoints and the deletion size in all three carrier individuals were determined by molecular karyotyping confirming a large 14.5 Mb deletion encompassing the 13q21.1-13q21.33 region identical in all three carriers. Gene paucity and the lack of dosage-sensitive genes in the delineated region might explain the apparently innocuous nature of this chromosomal anomaly. The example of this family presents evidence for describing the chromosomal region 13q21.1-13q21.33 as a large euchromatic variant or benign copy number variation without phenotypic consequences. Our data underline the importance of a phenogenetic approach combining clinical and laboratory evidence in the interpretation of segmental chromosomal anomalies especially in genetic counseling related to prenatal diagnosis. (c) 2009 Wiley-Liss, Inc.