应用羊水穿刺术检测到的非平衡 X;8 易位导致的新发同时性远端 8p 缺失 8p23.3p23.1 和 Xp、Xq 缺失 Xp22.13q28 的分子细胞遗传学特征

Molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23.3p23.1 and Xp and Xq deletion of Xp22.13q28 due to an unbalanced X;8 translocation detected by amniocentesis.

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 and Health Science, Asia University, Taichung, Taiwan.

Department of Obstetrics and Gynecology, Hsinchu MacKay Memorial Hospital, Hsinchu, Taiwan.

出版信息

Taiwan J Obstet Gynecol. 2023 Jan;62(1):128-131. doi: 10.1016/j.tjog.2022.01.010.

DOI:10.1016/j.tjog.2022.01.010

PMID:36720525

Abstract

OBJECTIVE

We present molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23.3p23.1 and Xp and Xq deletion of Xp22.13q28 due to an unbalanced X;8 translocation detected by amniocentesis.

CASE REPORT

A 33-year-old primigravid woman underwent amniocentesis at 18 weeks of gestation because of a Down syndrome risk of 1/52 at the first-trimester maternal serum screening calculated from 0.29 multiples of the median (MoM) of pregnancy associated plasma protein-A (PAPP-A), 1.14 MoM of free β-hCG and 0.46 MoM of placental growth factor (PlGF). Amniocentesis revealed a karyotype of 45,X,add(8)(p23.1). The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cultured amniocytes revealed a 137-Mb deletion of Xp22.13q28 and a 10.53-Mb deletion of 8p23.3p23.1. The karyotype thus was 45,X,der(8)t(X;8)(p22.13;p23.1). Prenatal ultrasound revealed pericardial effusion and skin edema. The pregnancy was subsequently terminated, and a 568-g malformed fetus was delivered with hypertelorism and low-set ears. The cord blood had a karyotype of 45,X,der(8)t(X;8)(p22.13;p23.1). aCGH analysis of the cord blood revealed the result of arr [GRCH37 (hg19)] 8p23.3p23.1 (191,530-10,724,642) × 1.0, arr Xp22.13q28 (18,194,098-155,232,907) × 1.0.

CONCLUSION

aCGH analysis is useful elucidating the genetic nature of an aberrant chromosome with an additional maternal of unknown origin attached to a chromosome terminal region.

摘要

目的

我们呈现了一例由不平衡 X;8 易位导致的新发伴发的远端 8p 缺失 8p23.3p23.1 和 Xp 和 Xq 缺失 Xp22.13q28 的分子细胞遗传学特征，该易位通过羊水穿刺术检测到。

病例报告

一名 33 岁初产妇因在早孕期唐氏综合征风险为 1/52（根据 0.29 中位数倍数（MoM）妊娠相关血浆蛋白-A（PAPP-A）、1.14 MoM 游离β-hCG 和 0.46 MoM 胎盘生长因子（PlGF）计算）而接受羊水穿刺术。羊水穿刺术显示核型为 45,X,add(8)(p23.1)。父母的核型正常。从培养的羊水细胞中提取的 DNA 进行的比较基因组杂交（aCGH）分析显示，Xp22.13q28 缺失 137Mb，8p23.3p23.1 缺失 10.53Mb。因此，核型为 45,X,der(8)t(X;8)(p22.13;p23.1)。产前超声显示心包积液和皮肤水肿。随后终止妊娠，娩出 568g 畸形胎儿，具有眼距过宽和低位耳。脐带血核型为 45,X,der(8)t(X;8)(p22.13;p23.1)。脐带血的 aCGH 分析显示结果为 arr [GRCH37 (hg19)] 8p23.3p23.1(191,530-10,724,642)×1.0，arr Xp22.13q28(18,194,098-155,232,907)×1.0。

结论

aCGH 分析有助于阐明具有未知来源的额外母源性染色体附着在染色体末端区域的异常染色体的遗传性质。

相似文献

Molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23.3p23.1 and Xp and Xq deletion of Xp22.13q28 due to an unbalanced X;8 translocation detected by amniocentesis.应用羊水穿刺术检测到的非平衡 X;8 易位导致的新发同时性远端 8p 缺失 8p23.3p23.1 和 Xp、Xq 缺失 Xp22.13q28 的分子细胞遗传学特征

Taiwan J Obstet Gynecol. 2023 Jan;62(1):128-131. doi: 10.1016/j.tjog.2022.01.010.

Molecular cytogenetic characterization of de novo concomitant proximal 21q deletion of 21q11.2q21.3 and distal Xp deletion of Xp22.33p22.2 due to an unbalanced X;21 translocation detected by amniocentesis.应用羊膜穿刺术检测到的不平衡 X;21 易位导致的新发同时近端 21q11.2q21.3 缺失和远端 Xp22.33p22.2 缺失的分子细胞遗传学特征。

Taiwan J Obstet Gynecol. 2023 Jan;62(1):123-127. doi: 10.1016/j.tjog.2022.01.009.

Prenatal diagnosis of partial monosomy 8p (8p23.2→pter) and partial trisomy 15q (15q21.2→qter) and incidental detection of a familial chromosome translocation of paternal origin in a pregnancy associated with increased nuchal translucency and an abnormal maternal serum screening result.产前诊断部分单体 8p 缺失（8p23.2→pter）和部分三体 15q 重复（15q21.2→qter），并在与颈项透明层增厚和母体血清筛查异常相关的妊娠中偶然发现源自父方的家族性染色体易位。

Taiwan J Obstet Gynecol. 2021 Jul;60(4):775-777. doi: 10.1016/j.tjog.2021.05.034.

Molecular cytogenetic characterization of Xp22.32→pter deletion and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion.一名男性胎儿的Xp22.32→pter缺失和Xq26.3→qter重复的分子细胞遗传学特征，该胎儿伴有46,Y,rec(X)dup(Xq)inv(X)(p22.3q26.3)、左心发育不全、身材矮小以及母亲的X染色体臂间倒位。

Taiwan J Obstet Gynecol. 2016 Oct;55(5):705-711. doi: 10.1016/j.tjog.2016.05.009.

Mosaic distal 9p deletion or 46,XY,del(9)(p23)/46,XY at amniocentesis in a pregnancy associated with perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome.在一项与围产期非整倍体细胞系逐渐减少和良好胎儿结局相关的妊娠中，羊膜穿刺术发现马赛克远端 9p 缺失或 46,XY,del(9)(p23)/46,XY。

Taiwan J Obstet Gynecol. 2024 Jul;63(4):540-544. doi: 10.1016/j.tjog.2024.05.007.

Prenatal diagnosis and molecular cytogenetic characterization of a de novo deletion of 4q34.1→qter associated with low PAPP-A and low PlGF in the first-trimester maternal serum screening, congenital heart defect on fetal ultrasound and a false negative non-invasive prenatal testing (NIPT) result.孕早期母体血清筛查中与低妊娠相关血浆蛋白A（PAPP-A）和低胎盘生长因子（PlGF）相关、胎儿超声显示先天性心脏缺陷以及无创产前检测（NIPT）结果为假阴性的4q34.1→qter新发缺失的产前诊断及分子细胞遗传学特征

Taiwan J Obstet Gynecol. 2022 Nov;61(6):1039-1043. doi: 10.1016/j.tjog.2022.08.006.

Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 21 associated with low PAPP-A and low PlGF in the first-trimester maternal serum screening.产前诊断及分子细胞遗传学分析提示与早孕期母血清筛查中低 PAPP-A 和低 PlGF 相关的嵌合性环状 21 号染色体

Taiwan J Obstet Gynecol. 2022 Mar;61(2):359-363. doi: 10.1016/j.tjog.2022.02.029.

Molecular cytogenetic characterization of del(X)(p22.33)mat and de novo dup(4)(q34.3q35.2) in a male fetus with multiple anomalies of facial dysmorphism, ventriculomegaly, congenital heart defects, short long bones and clinodactyly.一名患有面部畸形、脑室扩大、先天性心脏缺陷、长骨短小和手指弯曲等多种异常的男性胎儿中，X染色体（p22.33）母体缺失和4号染色体（q34.3q35.2）新生重复的分子细胞遗传学特征。

Taiwan J Obstet Gynecol. 2023 May;62(3):453-456. doi: 10.1016/j.tjog.2023.03.007.

Prenatal diagnosis and molecular cytogenetic characterization of de novo distal 5p deletion and distal 22q duplication.新发5p远端缺失和22q远端重复的产前诊断及分子细胞遗传学特征分析

Taiwan J Obstet Gynecol. 2020 Jan;59(1):140-145. doi: 10.1016/j.tjog.2019.11.023.

Prenatal diagnosis of partial monosomy 2q (2q37.3→qter) and partial trisomy 10q (10q24.31→qter) of paternal origin associated with increased nuchal translucency and abnormal maternal serum screening results.父源部分单体 2q（2q37.3→qter）和部分三体 10q（10q24.31→qter）的产前诊断与颈项透明层增厚和母体血清筛查异常结果相关。

Taiwan J Obstet Gynecol. 2020 Sep;59(5):758-762. doi: 10.1016/j.tjog.2020.07.024.

引用本文的文献

Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders.拷贝数变异相关疾病队列中脑磁共振成像异常的分类及神经学发现谱

Mol Syndromol. 2025 Apr;16(2):99-114. doi: 10.1159/000540599. Epub 2024 Aug 23.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

应用羊水穿刺术检测到的非平衡 X;8 易位导致的新发同时性远端 8p 缺失 8p23.3p23.1 和 Xp、Xq 缺失 Xp22.13q28 的分子细胞遗传学特征

Molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23.3p23.1 and Xp and Xq deletion of Xp22.13q28 due to an unbalanced X;8 translocation detected by amniocentesis.

机构信息

出版信息

OBJECTIVE

CASE REPORT

CONCLUSION

目的

病例报告

结论

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献