Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Department of Obstetrics and Gynecology, Tatung MacKay Memorial Hospital, Tatung, Taiwan.
Taiwan J Obstet Gynecol. 2020 May;59(3):437-439. doi: 10.1016/j.tjog.2020.03.018.
We present prenatal diagnosis and molecular cytogenetic characterization of a de novo interchromosomal insertion of ins(1; 8)(p22.1; q22q23) at amniocentesis.
A 34-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Conventional cytogenetic analysis revealed a chromosome 1p22.1 interstitial duplication and a chromosome 8q22-q23 interstitial deletion. The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) analysis using the DNA extracted from cultured amniocytes revealed no genomic imbalance. Metaphase fluorescence in situ hybridization (FISH) analysis on cultured amniocytes showed an interchromosomal insertion of ins(1; 8)(p22.1; q22q23) or ins(1; 8) (1pter→1p22.1::8q23→8q22::1p22.1→1qter; 8pter→8q22::8q23→8qter). The long arm of chromosome 8 between bands 8q22 and 8q23 had been directly inserted into the short arm of chromosome 1 at band 1p22.1. The karyotype was 46,XY,ins(1; 8)(p22.1; q22q23) or 46,XY,ins(1; 8)(1pter→1p22.1::8q23→8q22::1p22.1→1qter; 8pter→8q22::8q23→8qter). After genetic counseling, the parents decided to continue the pregnancy. A phenotypically normal male baby was delivered at term.
FISH and aCGH are useful for genetic counseling and molecular cytogenetic characterization of a de novo interchromosomal insertion detected by amniocentesis.
我们介绍了在羊膜穿刺术时发现的 1 号和 8 号染色体间的新型插入易位 ins(1;8)(p22.1;q22q23)的产前诊断和分子细胞遗传学特征。
一名 34 岁的女性因高龄接受了 18 周的羊膜穿刺术。常规细胞遗传学分析显示 1 号染色体 p22.1 区的片段重复和 8 号染色体 q22-q23 区的片段缺失。父母双方的核型均正常。用培养的羊水细胞提取的 DNA 进行的比较基因组杂交分析（aCGH）未发现基因组不平衡。培养的羊水细胞的中期荧光原位杂交（FISH）分析显示存在 1 号和 8 号染色体间的插入易位 ins(1;8)(p22.1;q22q23)或 ins(1;8)(1pter→1p22.1::8q23→8q22::1p22.1→1qter;8pter→8q22::8q23→8qter)。8 号染色体长臂在 8q22 和 8q23 带之间直接插入 1 号染色体短臂的 p22.1 带。核型为 46,XY,ins(1;8)(p22.1;q22q23)或 46,XY,ins(1;8)(1pter→1p22.1::8q23→8q22::1p22.1→1qter;8pter→8q22::8q23→8qter)。经过遗传咨询，父母决定继续妊娠。足月时分娩出一名表型正常的男婴。
FISH 和 aCGH 可用于遗传咨询和分子细胞遗传学特征分析，以确定羊膜穿刺术时发现的新型染色体间插入易位。
