PDF(Pubmed)
Abstract：
Numerous rearrangements in the 8p23 chromosomal region have been reported; included in these rearrangements are isolated deletions in this area. Such deletions are associated with a wide range of phenotypic characteristics, including motor impairment, epilepsy, intellectual disability, cardiac defects and seizures. The present study describes the case of a 30-year-old asymptomatic man that carries a de novo deletion in 8p23.2-p23.3. Molecular karyotyping indicated that the detected deletion involves genes that are in the critical region which is hypothesized to be responsible for the phenotypic characteristics associated with such deletions. The normal phenotype of the patient supports the hypothesis that there is incomplete penetrance of 8p23.2-p23.3 deletions.
摘要：
已经报道了8p23染色体区域中的许多重排;这些重排中包括该区域中的分离缺失。这种缺失与广泛的表型特征有关，包括运动障碍，癫痫,智力残疾,心脏缺陷和癫痫发作。本研究描述了一名30岁无症状男子的病例，该男子在8p23.2-p23.3中携带从头缺失。分子核型分析表明，检测到的缺失涉及关键区域中的基因，这些基因被认为是与此类缺失相关的表型特征的原因。患者的正常表型支持8p23.2-p23.3缺失的不完全外显率的假设。
