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。
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.
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, MacKay Memorial Hospital, Taipei, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2023 Jan;62(1):123-127. doi: 10.1016/j.tjog.2022.01.009.
OBJECTIVE
We present 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.
CASE REPORT
A 35-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 45,X,der(X)t(X; 21) (p22.2; q21.3),-21. Simultaneous array comparative genomic hybridization (aCGH) revealed the result of an 11.9-Mb Xp22.33p22.2 deletion encompassing HCCS, SHOX, AMELX and OFD1 and a 15.4-Mb 21q11.2q21.3 deletion encompassing NRIP1 and APP. The pregnancy was subsequently terminated, and a malformed fetus was delivered with craniofacial dysmorphism. The parental karyotypes were normal. Polymorphic DNA marker analysis by quantitative fluorescence polymerase chain reaction (QF-PCR) confirmed a paternal origin of the 21q proximal deletion. Cytogenetic analysis of cord blood confirmed the karyotype of 45,X,der(X)t(X; 21) (p22.2; q21.3),-21. aCGH analysis of the cord blood confirmed the prenatal diagnosis.
CONCLUSION
QF-PCR analysis is useful for determination of the parental origin of a de novo unbalanced X; autosome translocation detected by prenatal diagnosis. The information acquired is useful for genetic counseling under such a circumstance.
目的
我们呈现了一例经羊水穿刺检测到的新发伴发近端 21q 缺失 21q11.2q21.3 和远端 Xp 缺失 Xp22.33p22.2 的不平衡 X;21 易位的分子细胞遗传学特征。该易位由 X;21 易位引起，涉及到 X 染色体和 21 号染色体。
病例报告
一名 35 岁的初产妇因高龄接受了 17 周的羊水穿刺。羊水穿刺显示核型为 45,X,der(X)t(X;21) (p22.2;q21.3),-21。同时进行的 array comparative genomic hybridization (aCGH) 显示结果为 11.9Mb Xp22.33p22.2 缺失，包括 HCCS、SHOX、AMELX 和 OFD1，以及 15.4Mb 21q11.2q21.3 缺失，包括 NRIP1 和 APP。随后终止了妊娠，并分娩了一个有颅面畸形的畸形胎儿。父母的核型均正常。通过定量荧光聚合酶链反应 (QF-PCR) 的多态性 DNA 标记分析证实了 21q 近端缺失来自父源。脐带血的细胞遗传学分析证实了核型为 45,X,der(X)t(X;21) (p22.2;q21.3),-21。脐带血的 aCGH 分析证实了产前诊断。
结论
QF-PCR 分析可用于确定经产前诊断检测到的新发不平衡 X; 常染色体易位的亲本来源。在这种情况下，获得的信息有助于遗传咨询。
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