■2p15p16.1微缺失综合征在2007年首次被描述。微缺失的大小是可变的,包括几个基因,像XPO1,USP34,BCL11A,REL,PAPOLG,PEX13、COMMD1、B3GNT2和EHBP1。该综合征的特征包括身材矮小,小头畸形,低张力,精神运动性发育迟缓,上肢和下肢手指的异常,畸形特征,如前额后退,宽阔的鼻梁,telechanthus,上睑下垂,平坦的philtrum,小小的嘴巴,狭窄的腭和外翻的下唇。2p15缺失综合征的精确基因型-表型相关性尚不清楚。本研究的目的是介绍患者的病史和诊断过程。
■一名9岁的男孩因畸形特征和轻度智力低下而进入遗传门诊。丰满的嘴唇,宽鼻根,非常轻的头发,过度发育的皮下组织,关节松弛,体位缺损,带有凉鞋间隙的扁平外翻脚,Brachydactyly,和注意力集中的问题,记忆,发现了计数。诊断基于微阵列测试,使用CytoScan750K阵列进行拷贝数变异分析。显示了2号染色体短臂内2p15区域(含50kbp)缺失形式的遗传失衡。微缺失覆盖2个基因:USP34和XPO1。父母不是这种突变的携带者。
患者的表型特征反映在基因测试中。2p15微缺失综合征是遗传异质性的,可能是从头发生的,如在所提出的情况下。2p15缺失综合征的精确基因型-表型相关性应广泛研究,因为文献中主要提到2p15p16.1综合征。尽管2p15微缺失综合征是一个罕见的发现,其特征主要是轻度的,有必要特别注意他们将患者转介给遗传咨询以做出准确的诊断。
UNASSIGNED: 2p15p16.1 microdeletion syndrome was described for the first time in 2007. The size of the microdeletion is variable and encompasses several genes, like XPO1, USP34, BCL11A, REL, PAPOLG, PEX13, COMMD1, B3GNT2, and EHBP1. Features of the syndrome include short stature, microcephaly, hypotonia, psychomotor developmental delay, anomalies of the fingers of the upper and lower limbs, dysmorphic features like receding forehead, broad nasal bridge, telecanthus, ptosis, flat philtrum, small mouth with a high, narrow palate and everted lower lip. The precise genotype-phenotype correlation in 2p15 deletion syndrome is not understood. The aim of the study is to present the patient\'s medical history and the diagnostic process.
UNASSIGNED: A boy aged 9 was admitted to the Genetic Outpatient Clinic due to dysmorphic features and mild mental retardation. Full lips, broad nasal root, very light hair, excessively developed subcutaneous tissue, joint laxity, postural defect, flat-valgus foot with sandal gap, brachydactyly, and problems with concentration, memory, and counting were found. Diagnosis was based on microarray testing, and copy-number variation analysis was performed using CytoScan 750K array. Genetic imbalance in the form of a deletion within the short arm of chromosome 2 in the 2p15 region (containing 50 kbp) was shown. The microdeletion covers 2 genes: USP34 and XPO1. Parents were not carriers of that mutation.
UNASSIGNED: The phenotypic features presented by the patient were reflected in the genetic test. 2p15 microdeletion syndrome is genetically heterogeneous with possible de novo occurrence, as in the presented case. The precise genotype-phenotype correlation in 2p15 deletion syndrome should be widely studied because in the literature there is mainly mentioned 2p15p16.1 syndrome. Even though 2p15 microdeletion syndrome is a rare discovery and its features are mainly mild, it is necessary to pay special attention to them to refer patients to genetic counseling to make an accurate diagnosis.