Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review
Abstract Background Copy number variation (CNV) of X chromosome can lead to a variety of neonatal abnormalities, especially for male fetuses. In recent years, due to the high sensitivity and high specificity of NIPS, its application has gradually expanded from chromosome aneuploidy to CNV. Few prena...
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| Format: | Article |
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BMC
2024-02-01
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| Series: | BMC Medical Genomics |
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| Online Access: | https://doi.org/10.1186/s12920-024-01824-8 |
| _version_ | 1797272891269578752 |
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| author | Qing Lin Chunya Liang Bole Du Lijiao Li Hong Li Xiaolan Mai Sheng Li Wenyu Xu Cunzhen Wu Mi Zeng |
| author_facet | Qing Lin Chunya Liang Bole Du Lijiao Li Hong Li Xiaolan Mai Sheng Li Wenyu Xu Cunzhen Wu Mi Zeng |
| author_sort | Qing Lin |
| collection | DOAJ |
| description | Abstract Background Copy number variation (CNV) of X chromosome can lead to a variety of neonatal abnormalities, especially for male fetuses. In recent years, due to the high sensitivity and high specificity of NIPS, its application has gradually expanded from chromosome aneuploidy to CNV. Few prenatal cases involving the detection of Xq duplication and deletion by NIPS have been reported, but it is of great significance for genetic counseling. Case presentation A 36-year-old woman was referred for prenatal diagnosis and genetic counseling at 17 weeks of gestation because of abnormal result of noninvasive prenatal screening (NIPS). Multiple congenital malformations, hydrocephalus, and enlarged gallbladder were observed by prenatal ultrasound. Amniocentesis revealed the karyotype of the fetus as 46, XN, add(X) (p22.2) and the result of chromosomal microarray analysis was arr[hg19] Xq27.1q28(138,506,454–154896094) × 2 and arr[hg19] Xp22.33p22.32(168,551–5,616,964) × 1. CNV-seq showed that the mother shares a 16.42 Mb duplication in the Xq27.1-q28 region and a 2.97 Mb deletion in the Xp22.33-p22.32 region. After genetic counseling, the couple chose to terminate the pregnancy. Conclusion The combination of NIPS and CMA would be of values in detection of subchromosomal duplications and/or deletions at fetal stage. The detection of X chromosome aberration in a male fetus should give suspicion of the possibility of maternal inheritance. |
| first_indexed | 2024-03-07T14:35:48Z |
| format | Article |
| id | doaj.art-5037c4c1101e489cbbf3346f2d15e6ae |
| institution | Directory Open Access Journal |
| issn | 1755-8794 |
| language | English |
| last_indexed | 2024-03-07T14:35:48Z |
| publishDate | 2024-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj.art-5037c4c1101e489cbbf3346f2d15e6ae2024-03-05T20:39:13ZengBMCBMC Medical Genomics1755-87942024-02-0117111110.1186/s12920-024-01824-8Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature reviewQing Lin0Chunya Liang1Bole Du2Lijiao Li3Hong Li4Xiaolan Mai5Sheng Li6Wenyu Xu7Cunzhen Wu8Mi Zeng9Center of Prenatal Diagnosis, Zhanjiang Maternity and Child Health Care HospitalCenter of Prenatal Diagnosis, Zhanjiang Maternity and Child Health Care HospitalGuangzhou Jingke Biotechnology Co., LtdCenter of Prenatal Diagnosis, Zhanjiang Maternity and Child Health Care HospitalGuangzhou Jingke Biotechnology Co., LtdCenter of Prenatal Diagnosis, Zhanjiang Maternity and Child Health Care HospitalGuangzhou Jingke Biotechnology Co., LtdCenter of Prenatal Diagnosis, Zhanjiang Maternity and Child Health Care HospitalCenter of Prenatal Diagnosis, Zhanjiang Maternity and Child Health Care HospitalGuangzhou Jingke Biotechnology Co., LtdAbstract Background Copy number variation (CNV) of X chromosome can lead to a variety of neonatal abnormalities, especially for male fetuses. In recent years, due to the high sensitivity and high specificity of NIPS, its application has gradually expanded from chromosome aneuploidy to CNV. Few prenatal cases involving the detection of Xq duplication and deletion by NIPS have been reported, but it is of great significance for genetic counseling. Case presentation A 36-year-old woman was referred for prenatal diagnosis and genetic counseling at 17 weeks of gestation because of abnormal result of noninvasive prenatal screening (NIPS). Multiple congenital malformations, hydrocephalus, and enlarged gallbladder were observed by prenatal ultrasound. Amniocentesis revealed the karyotype of the fetus as 46, XN, add(X) (p22.2) and the result of chromosomal microarray analysis was arr[hg19] Xq27.1q28(138,506,454–154896094) × 2 and arr[hg19] Xp22.33p22.32(168,551–5,616,964) × 1. CNV-seq showed that the mother shares a 16.42 Mb duplication in the Xq27.1-q28 region and a 2.97 Mb deletion in the Xp22.33-p22.32 region. After genetic counseling, the couple chose to terminate the pregnancy. Conclusion The combination of NIPS and CMA would be of values in detection of subchromosomal duplications and/or deletions at fetal stage. The detection of X chromosome aberration in a male fetus should give suspicion of the possibility of maternal inheritance.https://doi.org/10.1186/s12920-024-01824-8Noninvasive prenatal screeningPrenatal diagnosisChromosome microarray analysisXp22.33p22.32 deletionXq27.1q28 duplication |
| spellingShingle | Qing Lin Chunya Liang Bole Du Lijiao Li Hong Li Xiaolan Mai Sheng Li Wenyu Xu Cunzhen Wu Mi Zeng Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review BMC Medical Genomics Noninvasive prenatal screening Prenatal diagnosis Chromosome microarray analysis Xp22.33p22.32 deletion Xq27.1q28 duplication |
| title | Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review |
| title_full | Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review |
| title_fullStr | Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review |
| title_full_unstemmed | Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review |
| title_short | Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review |
| title_sort | prenatal detection and molecular cytogenetic characterization of xp deletion and xq duplication a case report and literature review |
| topic | Noninvasive prenatal screening Prenatal diagnosis Chromosome microarray analysis Xp22.33p22.32 deletion Xq27.1q28 duplication |
| url | https://doi.org/10.1186/s12920-024-01824-8 |
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