通过染色体微阵列分析在胎儿重组 11 号染色体综合征妊娠中诊断 14Mb11p11.2-p13 缺失，该胎儿存在 rec(11)del(11)(p11.2p13)ins(11)(q21p11.2p13)，并且母亲存在 11 号染色体插入 ins(11)(q21p11.2p13)。
Prenatal diagnosis of a 14-Mb 11p11.2-p13 deletion by chromosome microarray analysis in a pregnancy with fetal recombinant chromosome 11 syndrome of rec(11)del(11)(p11.2p13)ins(11)(q21p11.2p13) and maternal intrachromosomal insertion of ins(11)(q21p11.2p13).
机构信息
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical & Health Science, Asia University, Taichung, Taiwan.
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan; MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2024 Nov;63(6):913-917. doi: 10.1016/j.tjog.2024.09.010.
OBJECTIVE
We present prenatal diagnosis of a 14-Mb 11p11.2-p13 deletion by chromosome microarray analysis (CMA) in a pregnancy with fetal recombinant chromosome 11 syndrome of rec(11)del(11) (p11.2p13)ins(11) (q21p11.2p13) and maternal intrachromosomal insertion of ins(11) (q21p11.2p13).
CASE REPORT
A 25-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of a family history of psychiatric disorders in her two brothers and one maternal uncle. Array comparative genomic hybridization (aCGH) analysis of amniocentesis revealed a 14-Mb 11p13p11.2 deletion. The pregnancy was terminated at 19 weeks of gestation, and a 252-g fetus was delivered. Cytogenetic analysis of the parental bloods and cord blood revealed a karyotype of 46,XX,ins(11) (q21p11.2p13) in the mother, 46,XY in the father and 46,XY,rec(11)del(11) (p11.2p13)ins(11) (q21p11.2p13) in the fetus. aCGH analysis on the DNA extracted from cord blood revealed the result of arr 11p13q11.2 (32,697,424-46,712,173) × 1.0 [GRCh37] with a 14-Mb deletion of 11p13-p11.2 encompassing 54 OMIM genes including PHF21A, ALX4, EXT2 and SLC1A2. Polymorphic DNA marker analysis showed a maternal origin of the 11p deletion. The present case had an 11p13-p11.2 deletion encompassing 11p12-p11.3 which is associated with Potocki-Shaffer syndrome (PSS) or chromosome 11p11.2 deletion syndrome.
CONCLUSION
CMA is useful for prenatal detection of fetal genomic imbalance in case of familial intrachromosomal insertion.
目的
我们通过染色体微阵列分析（CMA）对胎儿重组 11 号染色体综合征 rec(11)del(11)(p11.2p13)ins(11)(q21p11.2p13)和母亲染色体内插入 ins(11)(q21p11.2p13)的孕妇进行产前诊断，发现 14Mb11p11.2-p13 缺失。
病例报告
一位 25 岁的初产妇，因两个兄弟和一个舅舅有精神障碍家族史，在妊娠 17 周时接受羊膜穿刺术。羊水的阵列比较基因组杂交（aCGH）分析显示 11p13p11.2 缺失 14Mb。妊娠在 19 周时终止，分娩出 252g 胎儿。父母血液和脐带血的细胞遗传学分析显示母亲的核型为 46,XX,ins(11)(q21p11.2p13)，父亲的核型为 46,XY，胎儿的核型为 46,XY,rec(11)del(11)(p11.2p13)ins(11)(q21p11.2p13)。从脐带血中提取的 DNA 的 aCGH 分析显示结果为 arr 11p13q11.2(32,697,424-46,712,173)×1.0[GRCh37]，11p13-p11.2 缺失 14Mb，包含 54 个 OMIM 基因，包括 PHF21A、ALX4、EXT2 和 SLC1A2。多态性 DNA 标记分析显示 11p 缺失来源于母亲。本病例存在 11p13-p11.2 缺失，包含 11p12-p11.3，与 Potocki-Shaffer 综合征（PSS）或 11p11.2 缺失综合征相关。
结论
CMA 可用于检测家族性染色体内插入所致胎儿基因组失衡的产前诊断。
Zotero 插件