Sismani Carolina, Anastasiadou Violetta, Kousoulidou Ludmila, Parkel Sven, Koumbaris George, Zilina Olga, Bashiardes Stavros, Spanou Elena, Kurg Ants, Patsalis Philippos C
Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia.
Eur J Med Genet. 2011 Sep-Oct;54(5):e510-5. doi: 10.1016/j.ejmg.2011.05.006. Epub 2011 Jun 17.
We report on a family with syndromic X-linked mental retardation (XLMR) caused by an Xp22.2-22.13 duplication. This family consists of a carrier mother and daughter and four affected sons, presenting with mental retardation, developmental delay, cardiovascular problems and mild dysmorphic facial features. Female carriers have normal intelligence and some common clinical features, as well as different clinical abnormalities. Cytogenetic analysis of the mother showed an Xp22.2 duplication which was passed to all her offspring. Fluorescence In Situ Hybridization (FISH) using whole chromosome paint and Bacterial Artificial Chromosome (BAC) clones covering Xp22.12-Xp22.3 region, confirmed the X chromosome origin and the size of the duplication. Two different targeted microarray methodologies were used for breakpoint confirmation, resulting in the localization of the duplication to approximately 9.75-18.98 Mb. Detailed description of such rare duplications provides valuable data for the investigation of genetic disease etiology.
我们报告了一个因Xp22.2 - 22.13重复导致的X连锁综合征型智力障碍（XLMR）家族。这个家族包括一位携带者母亲和女儿以及四个患病儿子，他们表现出智力障碍、发育迟缓、心血管问题和轻度面部畸形特征。女性携带者智力正常，有一些共同的临床特征，也有不同的临床异常表现。对母亲的细胞遗传学分析显示存在Xp22.2重复，该重复传递给了她所有的后代。使用覆盖Xp22.12 - Xp22.3区域的全染色体涂染和细菌人工染色体（BAC）克隆进行荧光原位杂交（FISH），证实了重复的X染色体起源和大小。使用两种不同的靶向微阵列方法进行断点确认，结果将重复定位到大约9.75 - 18.98 Mb。对这种罕见重复的详细描述为遗传疾病病因学研究提供了有价值的数据。
