PDF(Pubmed)
Abstract：
BACKGROUND: Chromosomal 3q deletion is a recurrent genomic alternation, which is rarely reported in clinic.
METHODS: A 27-year-old woman underwent amniocentesis for cytogenetic analysis and single nucleotide polymorphism (SNP) array analysis at 27 weeks of gestation, due to ventricular septum defect in prenatal ultrasound findings.
METHODS: G-banding analysis showed the karyotype of the fetus was normal and the couple also had normal karyotypes. However, SNP array detected a 1.71 Mb microdelection in 3q29, which was described as arr[hg19]3q29(194184392-195887205) × 1. There are 12 genes located in this locus.
METHODS: The couple refused SNP array to testify the 3q29 microdeletion was inherited or de novo and they chose termination of pregnancy.
RESULTS: The deleted region in the fetus overlapped with part 3q29 microdeletion syndrome, which was characterized by learning disability, speech delay, mental deficiency, ocular abnormalities and craniofacial features. In addition, no similar/overlapping 3q29 microdeletion cases were reported according to the published literature and database.
CONCLUSIONS: For the chromosomal microscopic imbalances partially overlapping with the defined pathogenic syndrome, deleted/duplicated size, genetic materials and phenotypic diversity should be taken into consideration when genetic counseling is offered by the clinicians.
METHODS: A 27-year-old woman underwent amniocentesis for cytogenetic analysis and single nucleotide polymorphism (SNP) array analysis at 27 weeks of gestation, due to ventricular septum defect in prenatal ultrasound findings.
METHODS: G-banding analysis showed the karyotype of the fetus was normal and the couple also had normal karyotypes. However, SNP array detected a 1.71 Mb microdelection in 3q29, which was described as arr[hg19]3q29(194184392-195887205) × 1. There are 12 genes located in this locus.
METHODS: The couple refused SNP array to testify the 3q29 microdeletion was inherited or de novo and they chose termination of pregnancy.
RESULTS: The deleted region in the fetus overlapped with part 3q29 microdeletion syndrome, which was characterized by learning disability, speech delay, mental deficiency, ocular abnormalities and craniofacial features. In addition, no similar/overlapping 3q29 microdeletion cases were reported according to the published literature and database.
CONCLUSIONS: For the chromosomal microscopic imbalances partially overlapping with the defined pathogenic syndrome, deleted/duplicated size, genetic materials and phenotypic diversity should be taken into consideration when genetic counseling is offered by the clinicians.
摘要：
背景：染色体3q缺失是一种反复发生的基因组变异，这在临床上很少报道。
方法：一名27岁女性在妊娠27周时接受了羊膜穿刺术进行细胞遗传学分析和单核苷酸多态性（SNP）阵列分析，由于室间隔缺损的产前超声发现。
方法：G显带分析显示胎儿的核型正常，夫妇也具有正常的核型。然而,SNP阵列在3q29中检测到1.71Mb微量氧化，描述为arr[hg19]3q29(194184392-195887205)×1。有12个基因位于该位点。
方法：这对夫妇拒绝SNP阵列来证明3q29微缺失是遗传的或从头的，他们选择终止妊娠。
结果：胎儿缺失区域与3q29部分微缺失综合征重叠，以学习障碍为特征，说话延迟,精神缺陷,眼部异常和颅面特征。此外,根据已发表的文献和数据库,未报告类似/重叠的3q29微缺失病例.
结论：对于与定义的致病综合征部分重叠的染色体微观失衡，删除/复制的大小，临床医生提供遗传咨询时，应考虑遗传物质和表型多样性。
方法：一名27岁女性在妊娠27周时接受了羊膜穿刺术进行细胞遗传学分析和单核苷酸多态性（SNP）阵列分析，由于室间隔缺损的产前超声发现。
方法：G显带分析显示胎儿的核型正常，夫妇也具有正常的核型。然而,SNP阵列在3q29中检测到1.71Mb微量氧化，描述为arr[hg19]3q29(194184392-195887205)×1。有12个基因位于该位点。
方法：这对夫妇拒绝SNP阵列来证明3q29微缺失是遗传的或从头的，他们选择终止妊娠。
结果：胎儿缺失区域与3q29部分微缺失综合征重叠，以学习障碍为特征，说话延迟,精神缺陷,眼部异常和颅面特征。此外,根据已发表的文献和数据库,未报告类似/重叠的3q29微缺失病例.
结论：对于与定义的致病综合征部分重叠的染色体微观失衡，删除/复制的大小，临床医生提供遗传咨询时，应考虑遗传物质和表型多样性。
