BACKGROUND Interstitial 4q deletions are rare chromosomal alterations. Most of the previously reported deletions involving the 4q13.3 region are large chromosomal alterations with a common loss of band 4q21 resulting in marked growth restriction, severe intellectual disability, and absent or severely delayed speech. A microdeletion of 4q13.3 hasn't been previously reported. We discuss the involvement of genes and the observed phenotype, comparing it with that of previously reported patients. CASE PRESENTATION We report on a 4q13.3 microdeletion detected in three affected individuals of a Lithuanian family. The clinical features of two affected children and their affected mother are very similar and include short stature, congenital heart defect, skeletal anomalies, minor facial anomalies, delayed puberty, and intellectual disability. Whole genome SNP microarray analysis of one child revealed an interstitial 4q13.3 microdeletion, 1.56 Mb in size. FISH analysis confirmed the deletion in the proband and identified the same deletion in her affected sib and mother, while it was not detected in a healthy sib. Deletion includes ADAMTS3, ANKRD17, COX18, GC, and NPFFR2 protein-coding genes. CONCLUSIONS Our findings suggest that 4q13.3 microdeletion is a cause of a recognizable phenotype of three affected individuals. The detected microdeletion is the smallest interstitial deletion in 4q13. We highlight ADAMTS3, ANKRD17 and RNU4ATAC9P as candidate genes for intellectual disability, growth retardation and congenital heart defect.

中文翻译：

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一例3名患有综合征性智力障碍的人的家族性4q13.3微缺失病例报告。

背景技术间质性4q缺失是罕见的染色体改变。先前报道的大多数涉及4q13.3区域的缺失都是较大的染色体改变，共同缺失4q21带，导致明显的生长受限，严重的智力残疾以及语音缺失或严重延迟。以前没有报道过4q13.3的微缺失。我们讨论了基因的参与和观察到的表型，并将其与先前报道的患者进行了比较。病例介绍我们报告了在立陶宛家庭的三名受影响个体中检测到的4q13.3微缺失。两名受影响的孩子及其患母亲的临床特征非常相似，包括身材矮小，先天性心脏缺陷，骨骼异常，面部轻微异常，青春期延迟和智力障碍。一个孩子的全基因组SNP微阵列分析显示间质性4q13.3微缺失，大小为1.56 Mb。FISH分析证实了先证者中的缺失，并在受影响的同胞和母亲中鉴定出相同的缺失，而在健康的同胞中未检测到。缺失包括ADAMTS3，ANKRD17，COX18，GC和NPFFR2蛋白编码基因。结论我们的发现表明4q13.3微缺失是三个受影响个体可识别表型的原因。检测到的微缺失是4q13中最小的间隙缺失。我们强调ADAMTS3，ANKRD17和RNU4ATAC9P是智力残疾，生长迟缓和先天性心脏缺陷的候选基因。FISH分析证实了先证者中的缺失，并在受影响的同胞和母亲中鉴定出相同的缺失，而在健康的同胞中未检测到。缺失包括ADAMTS3，ANKRD17，COX18，GC和NPFFR2蛋白编码基因。结论我们的发现表明4q13.3微缺失是三个受影响个体可识别表型的原因。检测到的微缺失是4q13中最小的间隙缺失。我们强调ADAMTS3，ANKRD17和RNU4ATAC9P是智力残疾，生长迟缓和先天性心脏缺陷的候选基因。FISH分析证实了先证者的缺失，并在受影响的同胞和母亲中鉴定出相同的缺失，而在健康的同胞中未检测到。缺失包括ADAMTS3，ANKRD17，COX18，GC和NPFFR2蛋白编码基因。结论我们的发现表明4q13.3微缺失是三个受影响个体可识别表型的原因。检测到的微缺失是4q13中最小的间隙缺失。我们强调ADAMTS3，ANKRD17和RNU4ATAC9P是智力残疾，生长迟缓和先天性心脏缺陷的候选基因。3微缺失是三个受影响个体可识别表型的原因。检测到的微缺失是4q13中最小的间隙缺失。我们强调ADAMTS3，ANKRD17和RNU4ATAC9P是智力残疾，生长迟缓和先天性心脏缺陷的候选基因。3微缺失是三个受影响个体可识别表型的原因。检测到的微缺失是4q13中最小的间隙缺失。我们强调ADAMTS3，ANKRD17和RNU4ATAC9P是智力残疾，生长迟缓和先天性心脏缺陷的候选基因。