Abstract：
OBJECTIVE: To explore the genetic basis for a patient with unexplained developmental delay and special facial features.
METHODS: A male patient admitted to the Maternal and Child Health Care Hospital of Gansu Province on May 27, 2021 due to infertility was selected as the study subject. Clinical data of the patient was collected, and genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing.
RESULTS: The patient was found to harbor a 2.54 Mb deletion in 1p36.33p36.32 and a heterozygous c.1123G>C (p.E375Q) variant of the CHD3 gene, neither of which was detected in his parents.
CONCLUSIONS: The patient was diagnosed with Snijders Blok-Campeau syndrome in conjunct with 1p36 deletion syndrome, which has enabled genetic counseling for his family.
METHODS: A male patient admitted to the Maternal and Child Health Care Hospital of Gansu Province on May 27, 2021 due to infertility was selected as the study subject. Clinical data of the patient was collected, and genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing.
RESULTS: The patient was found to harbor a 2.54 Mb deletion in 1p36.33p36.32 and a heterozygous c.1123G>C (p.E375Q) variant of the CHD3 gene, neither of which was detected in his parents.
CONCLUSIONS: The patient was diagnosed with Snijders Blok-Campeau syndrome in conjunct with 1p36 deletion syndrome, which has enabled genetic counseling for his family.
摘要：
目的：探讨1例不明原因发育迟缓和特殊面部特征患者的遗传基础。
方法：以甘肃省妇幼保健院2021年5月27日因不孕症入院的男性患者为研究对象。收集患者的临床资料,从患者及其父母的外周血样本中提取基因组DNA。进行全外显子组测序(WES),候选变异体通过Sanger测序进行验证。
结果：发现该患者在1p36.33p36.32中缺失2.54Mb，并且杂合c.1123G>C（p。E375Q）CHD3基因的变体，在他的父母身上都没有发现。
结论：患者被诊断为SnijdersBlok-Campeau综合征并伴有1p36缺失综合征，这为他的家人提供了遗传咨询。
方法：以甘肃省妇幼保健院2021年5月27日因不孕症入院的男性患者为研究对象。收集患者的临床资料,从患者及其父母的外周血样本中提取基因组DNA。进行全外显子组测序(WES),候选变异体通过Sanger测序进行验证。
结果：发现该患者在1p36.33p36.32中缺失2.54Mb，并且杂合c.1123G>C（p。E375Q）CHD3基因的变体，在他的父母身上都没有发现。
结论：患者被诊断为SnijdersBlok-Campeau综合征并伴有1p36缺失综合征，这为他的家人提供了遗传咨询。
