Reinstein Eyal, Liberman Meytal, Feingold-Zadok Michal, Tenne Tamar, Graham John M
Medical Genetics Institute, Meir Medical Center, Israel; Sackler School of Medicine, Tel Aviv University, Israel.
Medical Genetics Institute, Meir Medical Center, Israel.
Mol Genet Metab. 2016 May;118(1):60-3. doi: 10.1016/j.ymgme.2016.03.007. Epub 2016 Mar 23.
The increasing use of chromosomal microarray studies in patients with intellectual disability has led to the description of new microdeletion and microduplication syndromes. We report terminal microdeletions in 13q34 chromosome region in 5 adult patients of two unrelated families. Patients harboring 13q34 microdeletions display common clinical features, including intellectual disability, obesity, and mild facial dysmorphism. These individuals can become fairly self-sufficient, however they do not live independently, and require community and social support. Further systematic analysis of the genes comprised in the deleted region will allow the identification of genes whose haploinsufficiency is expected to lead to disease manifestations, in particular intellectual disability.
染色体微阵列研究在智力残疾患者中的应用日益增加，这促使人们对新的微缺失和微重复综合征进行了描述。我们报告了两个无关家庭的5名成年患者在13q34染色体区域存在末端微缺失。携带13q34微缺失的患者表现出常见的临床特征，包括智力残疾、肥胖和轻度面部畸形。这些个体能够实现相当程度的自给自足，然而他们无法独立生活，需要社区和社会支持。对缺失区域所含基因进行进一步的系统分析，将有助于识别那些单倍剂量不足预期会导致疾病表现，尤其是智力残疾的基因。
