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一例新发等臂双着丝粒染色体18的产前诊断及分子细胞遗传学分析

Prenatal diagnosis and molecular cytogenetic analysis of a de novo isodicentric chromosome 18.

作者信息

Zhang Yanliang, Dai Yong, Ren Jinghui, Wang Linqian

机构信息

Clinical Medical Research Center, Second Clinical Medical College (Shenzhen People's Hospital), Jinan University, Guangdong Province, China.

出版信息

Ann Saudi Med. 2010 Nov-Dec;30(6):489-92. doi: 10.4103/0256-4947.70578.

DOI:10.4103/0256-4947.70578
PMID:20864786
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2994170/
Abstract

Isodicentric chromosome 18 [idic(18)] is rare structural aberration. We report on a prenatal case described by conventional and molecular cytogenetic analyses. The sonography at 24 weeks of gestation revealed multiple fetal anomalies; radial aplasia and ventricular septal defect were significant features. Routine karyotyping showed a derivative chromosome replacing one normal chromosome 18. The parental karyotypes were normal, indicating that the derivative chromosome was de novo. Array comparative genomic hybridization (array-CGH) revealed 18p11.21→qter duplication and 18p11.21→pter deletion for genomic DNA of the fetus. The breakpoint was located at 18p11.21 (between 12104527 bp and 12145199 bp from the telomere of 18p). Thus, the derivative chromosome was ascertained as idic(18)(qter→p11.21::p11.21→qter). Fluorescent in situ hybridization (FISH) confirmed that the derivative chromosome was idic(18). Our report describes a rare isodicentric chromosome 18 and demonstrates that array-CGH is a useful complementary tool to cytogenetic analysis for reliable identifying derivative chromosome.

摘要

等臂双着丝粒染色体18 [idic(18)]是一种罕见的结构畸变。我们报告了一例通过常规和分子细胞遗传学分析描述的产前病例。妊娠24周时的超声检查发现多个胎儿异常；桡骨发育不全和室间隔缺损是显著特征。常规核型分析显示一条衍生染色体替代了一条正常的18号染色体。父母的核型正常，表明该衍生染色体是新发的。阵列比较基因组杂交（array-CGH）显示胎儿基因组DNA存在18p11.21→qter重复和18p11.21→pter缺失。断点位于18p11.21（距离18p端粒12104527 bp至12145199 bp之间）。因此，该衍生染色体被确定为idic(18)(qter→p11.21::p11.21→qter)。荧光原位杂交（FISH）证实该衍生染色体为idic(18)。我们的报告描述了一种罕见的等臂双着丝粒染色体18，并证明阵列比较基因组杂交是细胞遗传学分析中用于可靠鉴定衍生染色体的有用补充工具。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40e4/2994170/b1e763232364/ASM-30-489-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40e4/2994170/6660b082ee77/ASM-30-489-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40e4/2994170/06609f67be25/ASM-30-489-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40e4/2994170/7a6bf373d46b/ASM-30-489-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40e4/2994170/4fdb8fa7a94a/ASM-30-489-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40e4/2994170/9a416a319128/ASM-30-489-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40e4/2994170/d3178ba562d2/ASM-30-489-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40e4/2994170/b1e763232364/ASM-30-489-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40e4/2994170/6660b082ee77/ASM-30-489-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40e4/2994170/06609f67be25/ASM-30-489-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40e4/2994170/7a6bf373d46b/ASM-30-489-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40e4/2994170/4fdb8fa7a94a/ASM-30-489-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40e4/2994170/9a416a319128/ASM-30-489-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40e4/2994170/d3178ba562d2/ASM-30-489-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40e4/2994170/b1e763232364/ASM-30-489-g007.jpg

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本文引用的文献

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Identification and characterization of a new type of asymmetrical dicentric chromosome derived from a single maternal chromosome 18.一种源自单一母本18号染色体的新型不对称双着丝粒染色体的鉴定与特征分析。
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