Inherited duplication of the short arm of chromosome 18p11.32-p11.31 associated with developmental delay/intellectual disability
Inherited duplication of the short arm of chromosome 18p11.32-p11.31 associated with developmental delay/intellectual disability
复制标题
DOI：
10.1097/mcd.0000000000000097
复制
发表时间：
2016-01-01
影响因子：
0.7
通讯作者：
Smith, Kath
中科院分区：
文献类型：
--
作者：
Balasubramanian, Meena;Sithambaram, Sivagamy;Smith, Kath
在文献中报告了与一系列不同异常相关的18 p重复，并且在具有正常表型的患者中也有报告。这些报告中的大多数仅基于G显带细胞遗传学评价。使用arrayCGH表征提高了定义不平衡区域的能力，并有助于识别任何重复基因的潜在潜在三倍性。我们报告了一个家庭，父亲和他的两个女儿都有一个重复18p11.32-p11.31的特点是芯片。他们存在不同程度的智力残疾/发育迟缓和行为困难，但没有任何身体异常。这个家庭有助于对纯重复18 p的知识不断增长，并提供信息解释新的阵列发现的背景下，家族史。它还重申了阐明详细的学习和发育表型和家族谱系在帮助解释基因检测结果方面的重要性。版权所有（C）2015威科医疗集团All rights reserved.
Duplications of 18p have been reported in the literature associated with a range of different abnormalities and also in patients with normal phenotypes. The majority of these reports are based solely on G-banded cytogenetic evaluation. The use of arrayCGH characterization has improved the ability to define regions of imbalance and is helping to identify potential underlying triplosufficiency of any duplicated genes. We report on a family where the father and his two daughters all have a duplication 18p11.32-p11.31 characterized by microarray. They present with variable levels of intellectual disability/developmental delay and behavioural difficulties without any physical anomalies. This family contributes toward the growing knowledge of pure duplications of 18p and provides information on interpretation of novel array findings in the context of family history. It also reiterates the importance of elucidating a detailed learning and developmental phenotype and family pedigree in aiding interpretation of genetic testing results. Copyright (C) 2015 Wolters Kluwer Health, Inc. All rights reserved.