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Abstract：
Constitutional deletions of chromosome 1q42 region are rare. The phenotype spectrum associated with this copy number change is variable, including developmental delay, intellectual disability, seizures, and dysmorphology. This study describes a patient with developmental delays and brain abnormalities. G-banded karyotype, FISH, SNP oligonucleotide microarray analysis (SOMA), and whole exome sequencing analysis were performed. Postnatal reanalysis of prenatal SOMA and follow-up parental testing revealed a paternally inherited 63 kb deletion at 1q42.11 in the patient. We characterized the clinical features of this patient, providing insight into the clinical phenotype associated with deletions of the 1q42.11 sub-band. Our study provides new evidence supporting the potential functional importance of the FBXO28 3\' UTR region and the hypothesis that FBXO28 is a critical gene in the pathogenesis of chromosome 1q41q42 microdeletion syndrome. It also highlights the different goals and reporting criteria between prenatal and postnatal microarray tests.
摘要：
染色体1q42区域的结构缺失很少。与这种拷贝数变化相关的表型谱是可变的，包括发育迟缓,智力残疾,癫痫发作,和畸形学。这项研究描述了一名患有发育迟缓和大脑异常的患者。G带核型,FISH,SNP寡核苷酸微阵列分析（SOMA），并进行全外显子组测序分析。产前SOMA的产后再分析和后续父母测试显示，患者在1q42.11时父系遗传63kb缺失。我们描述了这个病人的临床特征，提供与1q42.11子带缺失相关的临床表型的洞察。我们的研究提供了新的证据支持FBXO283'UTR区的潜在功能重要性以及FBXO28是染色体1q41q42微缺失综合征发病机理中的关键基因的假设。它还强调了产前和产后微阵列测试之间的不同目标和报告标准。
