Cargando…

Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report

BACKGROUND: Copy number variation (CNV) is a complex genomic rearrangement that has been linked to a large number of human diseases. Chromosome 15q13 microduplication is a rare form of CNV, which has been proved to be associated with multiple human disorders; however, the association between chromos...

Descripción completa

Detalles Bibliográficos
Autores principales: Lin, Chen-Zhao, Qi, Bi-Ru, Hu, Jian-Su, Huang, Yu-Dian, Huang, Xiu-Qiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537215/
https://www.ncbi.nlm.nih.gov/pubmed/31149030
http://dx.doi.org/10.1186/s13039-019-0437-1
_version_ 1783421956191682560
author Lin, Chen-Zhao
Qi, Bi-Ru
Hu, Jian-Su
Huang, Yu-Dian
Huang, Xiu-Qiong
author_facet Lin, Chen-Zhao
Qi, Bi-Ru
Hu, Jian-Su
Huang, Yu-Dian
Huang, Xiu-Qiong
author_sort Lin, Chen-Zhao
collection PubMed
description BACKGROUND: Copy number variation (CNV) is a complex genomic rearrangement that has been linked to a large number of human diseases. Chromosome 15q13 microduplication is a rare form of CNV, which has been proved to be associated with multiple human disorders; however, the association between chromosome 15q13 microduplication and cardiac disorders has not been fully understood. CASE PRESENTATION: A fetus with fetal cardiac developmental defects was detected by Color Doppler ultrasound imaging; however, further chromosomal G-banding revealed no abnormal karyotype. Then, chromosomal microarray analysis (CMA) was performed and revealed a 1.8 Mb-duplication of the chromosome 15q13.2q13.3 region containing 7 genes (TRPM1, KLF13, OTUD7A, CHRNA7, FAN1, MIR211 and RAHGAP11A). Cardiac ultrasound follow-up displayed significant enlargement of the space-occupying lesion in the fetal heart with extension of the gestational age, and the space-occupying lesion was finally pathologically diagnosed as cardiac rhabdomyoma. Next-generation sequencing revealed no mutations in the TSC1 or TSC2 gene in the fetus, the mother or the father. CONCLUSIONS: This is the first report to demonstrate the potential association between chromosome 15q13 microduplication and fetal cardiac rhabdomyoma. It is recommended that CMA be employed in fetuses with abnormal cardiac development diagnosed by routine cardiac color Doppler ultrasound imaging for early detection of congenital genetic abnormality, which may provide valuable information for prenatal diagnostic consultation and the decision on pregnancy termination.
format Online
Article
Text
id pubmed-6537215
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-65372152019-05-30 Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report Lin, Chen-Zhao Qi, Bi-Ru Hu, Jian-Su Huang, Yu-Dian Huang, Xiu-Qiong Mol Cytogenet Case Report BACKGROUND: Copy number variation (CNV) is a complex genomic rearrangement that has been linked to a large number of human diseases. Chromosome 15q13 microduplication is a rare form of CNV, which has been proved to be associated with multiple human disorders; however, the association between chromosome 15q13 microduplication and cardiac disorders has not been fully understood. CASE PRESENTATION: A fetus with fetal cardiac developmental defects was detected by Color Doppler ultrasound imaging; however, further chromosomal G-banding revealed no abnormal karyotype. Then, chromosomal microarray analysis (CMA) was performed and revealed a 1.8 Mb-duplication of the chromosome 15q13.2q13.3 region containing 7 genes (TRPM1, KLF13, OTUD7A, CHRNA7, FAN1, MIR211 and RAHGAP11A). Cardiac ultrasound follow-up displayed significant enlargement of the space-occupying lesion in the fetal heart with extension of the gestational age, and the space-occupying lesion was finally pathologically diagnosed as cardiac rhabdomyoma. Next-generation sequencing revealed no mutations in the TSC1 or TSC2 gene in the fetus, the mother or the father. CONCLUSIONS: This is the first report to demonstrate the potential association between chromosome 15q13 microduplication and fetal cardiac rhabdomyoma. It is recommended that CMA be employed in fetuses with abnormal cardiac development diagnosed by routine cardiac color Doppler ultrasound imaging for early detection of congenital genetic abnormality, which may provide valuable information for prenatal diagnostic consultation and the decision on pregnancy termination. BioMed Central 2019-05-27 /pmc/articles/PMC6537215/ /pubmed/31149030 http://dx.doi.org/10.1186/s13039-019-0437-1 Text en © The Author(s). 2019 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Lin, Chen-Zhao
Qi, Bi-Ru
Hu, Jian-Su
Huang, Yu-Dian
Huang, Xiu-Qiong
Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report
title Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report
title_full Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report
title_fullStr Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report
title_full_unstemmed Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report
title_short Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report
title_sort chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537215/
https://www.ncbi.nlm.nih.gov/pubmed/31149030
http://dx.doi.org/10.1186/s13039-019-0437-1
work_keys_str_mv AT linchenzhao chromosome15q13microduplicationinafetuswithcardiacrhabdomyomaacasereport
AT qibiru chromosome15q13microduplicationinafetuswithcardiacrhabdomyomaacasereport
AT hujiansu chromosome15q13microduplicationinafetuswithcardiacrhabdomyomaacasereport
AT huangyudian chromosome15q13microduplicationinafetuswithcardiacrhabdomyomaacasereport
AT huangxiuqiong chromosome15q13microduplicationinafetuswithcardiacrhabdomyomaacasereport