Abstract：
BACKGROUND: 3q29 microdeletion syndrome (OMIM 609425), first described in 2005, is a rare copy number variation (CNV), accompanied by various neurodevelopmental and psychiatric problems. Phenotypic features of the syndrome have not been fully characterized due to the new definition and rarity. Facial dysmorphology, musculoskeletal anomalies, cardiovascular abnormalities, gastrointestinal abnormalities, and dental abnormalities can be seen.
METHODS: A 28-month-old male patient was brought to the child and adolescent psychiatry clinic with a complaint of speech delay. He had mild dysmorphic symptoms. He was also sensitive to voice and often covered his ears. Balloon valvuloplasty was performed on the postnatal 28th day due to severe pulmonary stenosis. While karyotype was found to be normal, in array-Comparative genomic hybridization (aCGH), copy loss was detected in the long arm of chromosome 3 (arr[hg19] 3q29[196,209,689-197,601,344]x1), which contains approximately 1.4 Mb harboring 30 genes. Genetic counseling was given to the family of the patient who was diagnosed with 3q29 microdeletion syndrome.
CONCLUSIONS: In conclusion, we present 3q29 microdeletion syndrome with global developmental delay (GDD), dysmorphic face, hyperacusis, scoliosis, and severe pulmonary stenosis. Performing genetic analysis in patients with developmental delay and congenital heart disease (CHD) for which the cause cannot be explained will prevent these rare diseases from being missed, and the characteristics of the diseases will be better characterized with the reported cases.
METHODS: A 28-month-old male patient was brought to the child and adolescent psychiatry clinic with a complaint of speech delay. He had mild dysmorphic symptoms. He was also sensitive to voice and often covered his ears. Balloon valvuloplasty was performed on the postnatal 28th day due to severe pulmonary stenosis. While karyotype was found to be normal, in array-Comparative genomic hybridization (aCGH), copy loss was detected in the long arm of chromosome 3 (arr[hg19] 3q29[196,209,689-197,601,344]x1), which contains approximately 1.4 Mb harboring 30 genes. Genetic counseling was given to the family of the patient who was diagnosed with 3q29 microdeletion syndrome.
CONCLUSIONS: In conclusion, we present 3q29 microdeletion syndrome with global developmental delay (GDD), dysmorphic face, hyperacusis, scoliosis, and severe pulmonary stenosis. Performing genetic analysis in patients with developmental delay and congenital heart disease (CHD) for which the cause cannot be explained will prevent these rare diseases from being missed, and the characteristics of the diseases will be better characterized with the reported cases.
摘要：
背景：3q29微缺失综合征（OMIM609425），首次描述于2005年，是一种罕见的拷贝数变异(CNV)，伴随着各种神经发育和精神问题。由于新的定义和稀有性，该综合征的表型特征尚未得到充分表征。面部形态学,肌肉骨骼异常,心血管异常,胃肠道异常,可以看到牙齿异常。
方法：一名28个月大的男性患者被带到儿童和青少年精神病学诊所，主诉言语延迟。他有轻微的畸形症状。他对声音也很敏感，经常遮住耳朵。由于严重的肺动脉瓣狭窄，在产后第28天进行了球囊瓣膜成形术。虽然核型被发现是正常的，在阵列-比较基因组杂交(aCGH)中，在3号染色体的长臂中检测到拷贝丢失(arr[hg19]3q29[196,209,689-197,601,344]x1)，其中包含大约1.4Mb拥有30个基因。对被诊断为3q29微缺失综合征的患者家属进行遗传咨询。
结论：结论：我们提出了3q29微缺失综合征与全球发育迟缓（GDD），异形面，高音,脊柱侧弯,和严重的肺动脉狭窄.对病因无法解释的发育迟缓和先天性心脏病（CHD）患者进行基因分析可以防止这些罕见疾病被遗漏，报告的病例将更好地描述疾病的特征。
方法：一名28个月大的男性患者被带到儿童和青少年精神病学诊所，主诉言语延迟。他有轻微的畸形症状。他对声音也很敏感，经常遮住耳朵。由于严重的肺动脉瓣狭窄，在产后第28天进行了球囊瓣膜成形术。虽然核型被发现是正常的，在阵列-比较基因组杂交(aCGH)中，在3号染色体的长臂中检测到拷贝丢失(arr[hg19]3q29[196,209,689-197,601,344]x1)，其中包含大约1.4Mb拥有30个基因。对被诊断为3q29微缺失综合征的患者家属进行遗传咨询。
结论：结论：我们提出了3q29微缺失综合征与全球发育迟缓（GDD），异形面，高音,脊柱侧弯,和严重的肺动脉狭窄.对病因无法解释的发育迟缓和先天性心脏病（CHD）患者进行基因分析可以防止这些罕见疾病被遗漏，报告的病例将更好地描述疾病的特征。
