Cargando…

A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome

BACKGROUND: Partial duplications of the distal 9q have been rarely reported in literatures. The key features included characteristic facial appearance, long fingers and toes, slight psychomotor retardation, heart murmur et al. But rare severe congenital heart defects (CHD) such as TOF were reported...

Descripción completa

Detalles Bibliográficos
Autores principales: Liu, Jing, Hu, Hao, Ma, Na, Jia, Zhengjun, Zhou, Yuchun, Hu, Jiancheng, Wang, Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4960742/
https://www.ncbi.nlm.nih.gov/pubmed/27462370
http://dx.doi.org/10.1186/s13039-016-0267-3
_version_ 1782444577681047552
author Liu, Jing
Hu, Hao
Ma, Na
Jia, Zhengjun
Zhou, Yuchun
Hu, Jiancheng
Wang, Hua
author_facet Liu, Jing
Hu, Hao
Ma, Na
Jia, Zhengjun
Zhou, Yuchun
Hu, Jiancheng
Wang, Hua
author_sort Liu, Jing
collection PubMed
description BACKGROUND: Partial duplications of the distal 9q have been rarely reported in literatures. The key features included characteristic facial appearance, long fingers and toes, slight psychomotor retardation, heart murmur et al. But rare severe congenital heart defects (CHD) such as TOF were reported to be associated with 9qter duplications. CASE PRESENTATION: A 23-year-old woman was referred for genetic counseling and prenatal diagnosis at 25(3/7) weeks of gestation due to her male fetus, diagnosed as Tetralogy of Fallot Syndrome (TOF) by prenatal ultrasound. SNP (Single nucleotide polymorphism) array revealed that the male fetus had a de novo 5.47 Mb duplication at 9q34.13-qter. Meanwhile, non-invasive prenatal testing (NIPT) using low coverage whole genome massively parallel sequencing of circulating cell-free fetal DNA (cffDNA) showed consistent results. Multiplex ligation-dependent probe amplification (MLPA) also confirmed the duplication at 9qter. CONCLUSION: In this paper, we present an Asian fetus with TOF caused by a de novo 5.47 Mb duplication at 9q34.13-qter. Duplication of 9q34.13-qter should be considered as an etiological diagnosis in the case of TOF. Our prenatal diagnostic findings provide important information for genetic counseling on the male fetus and future pregnancies in this family. Chromosomal microarray analysis (CMA) remains the first-tier clinical diagnostic test for prenatal fetus with suspicious syndromes. We also highlight the high potential application of NIPT in the screening of sub-chromosomal rearrangement.
format Online
Article
Text
id pubmed-4960742
institution National Center for Biotechnology Information
language English
publishDate 2016
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-49607422016-07-27 A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome Liu, Jing Hu, Hao Ma, Na Jia, Zhengjun Zhou, Yuchun Hu, Jiancheng Wang, Hua Mol Cytogenet Case Report BACKGROUND: Partial duplications of the distal 9q have been rarely reported in literatures. The key features included characteristic facial appearance, long fingers and toes, slight psychomotor retardation, heart murmur et al. But rare severe congenital heart defects (CHD) such as TOF were reported to be associated with 9qter duplications. CASE PRESENTATION: A 23-year-old woman was referred for genetic counseling and prenatal diagnosis at 25(3/7) weeks of gestation due to her male fetus, diagnosed as Tetralogy of Fallot Syndrome (TOF) by prenatal ultrasound. SNP (Single nucleotide polymorphism) array revealed that the male fetus had a de novo 5.47 Mb duplication at 9q34.13-qter. Meanwhile, non-invasive prenatal testing (NIPT) using low coverage whole genome massively parallel sequencing of circulating cell-free fetal DNA (cffDNA) showed consistent results. Multiplex ligation-dependent probe amplification (MLPA) also confirmed the duplication at 9qter. CONCLUSION: In this paper, we present an Asian fetus with TOF caused by a de novo 5.47 Mb duplication at 9q34.13-qter. Duplication of 9q34.13-qter should be considered as an etiological diagnosis in the case of TOF. Our prenatal diagnostic findings provide important information for genetic counseling on the male fetus and future pregnancies in this family. Chromosomal microarray analysis (CMA) remains the first-tier clinical diagnostic test for prenatal fetus with suspicious syndromes. We also highlight the high potential application of NIPT in the screening of sub-chromosomal rearrangement. BioMed Central 2016-07-25 /pmc/articles/PMC4960742/ /pubmed/27462370 http://dx.doi.org/10.1186/s13039-016-0267-3 Text en © The Author(s). 2016 Open AccessThis 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
Liu, Jing
Hu, Hao
Ma, Na
Jia, Zhengjun
Zhou, Yuchun
Hu, Jiancheng
Wang, Hua
A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome
title A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome
title_full A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome
title_fullStr A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome
title_full_unstemmed A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome
title_short A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome
title_sort de novo duplication of chromosome 9q34.13-qter in a fetus with tetralogy of fallot syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4960742/
https://www.ncbi.nlm.nih.gov/pubmed/27462370
http://dx.doi.org/10.1186/s13039-016-0267-3
work_keys_str_mv AT liujing adenovoduplicationofchromosome9q3413qterinafetuswithtetralogyoffallotsyndrome
AT huhao adenovoduplicationofchromosome9q3413qterinafetuswithtetralogyoffallotsyndrome
AT mana adenovoduplicationofchromosome9q3413qterinafetuswithtetralogyoffallotsyndrome
AT jiazhengjun adenovoduplicationofchromosome9q3413qterinafetuswithtetralogyoffallotsyndrome
AT zhouyuchun adenovoduplicationofchromosome9q3413qterinafetuswithtetralogyoffallotsyndrome
AT hujiancheng adenovoduplicationofchromosome9q3413qterinafetuswithtetralogyoffallotsyndrome
AT wanghua adenovoduplicationofchromosome9q3413qterinafetuswithtetralogyoffallotsyndrome
AT liujing denovoduplicationofchromosome9q3413qterinafetuswithtetralogyoffallotsyndrome
AT huhao denovoduplicationofchromosome9q3413qterinafetuswithtetralogyoffallotsyndrome
AT mana denovoduplicationofchromosome9q3413qterinafetuswithtetralogyoffallotsyndrome
AT jiazhengjun denovoduplicationofchromosome9q3413qterinafetuswithtetralogyoffallotsyndrome
AT zhouyuchun denovoduplicationofchromosome9q3413qterinafetuswithtetralogyoffallotsyndrome
AT hujiancheng denovoduplicationofchromosome9q3413qterinafetuswithtetralogyoffallotsyndrome
AT wanghua denovoduplicationofchromosome9q3413qterinafetuswithtetralogyoffallotsyndrome