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| Status |
Public on Jun 05, 2021 |
| Title |
A prenatal diagnosis case of partial duplication 21q21.1-q21.2 with normal phenotype maternally inherited |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
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| Summary |
Down syndrome is characterized by trisomy 21 or partial duplication of chromosome 21. There have been extensive studies focusing on the identification of the Down Syndrome Critical Region (DSCR). Our case aims in providing evidence that duplication of 21q21.1-q21.2 is not included in the DSCR and that it has no clinical consequences on the phenotype.
Due to missing the appropriate gestational age for serological screening, Non-Invasive Prenatal Testing (NIPT) analysis was performed for a pregnant woman with normal prenatal examinations at 22 weeks of gestation. The result of NIPT revealed a 5.8Mb maternally inherited duplication of 21q21.1-q21.2. To test whether the fetus also carried this duplication, ultrasound-guided amniocentesis was conducted and the result of chromosomal microarray analysis (CMA) with amniotic fluid showed a 6.7Mb duplication of 21q21.1-q21.2 (ranging from position 18,981,715 to 25,707,009) for the fetus. This partial duplication of 21q21.1-q21.2 for the fetus was maternally inherited. The pregnant woman and her family decided to continue the pregnancy after genetic counseling. This case clearly indicates that 21q21.1-q21.2 duplication is not included in the DSCR and most probably has no clinical consequences on the phenotype.
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| Overall design |
Non-Invasive Prenatal Testing (NIPT) analysis was performed for a pregnant woman with normal prenatal examinations at 22 weeks of gestation due to missing the appropriate gestational age for serological screening. The result of NIPT revealed a 5.8Mb maternally inherited duplication of 21q21.1-q21.2. To test whether the fetus also carried this duplication, ultrasound-guided amniocentesis was conducted and the result of chromosomal microarray analysis (CMA) with amniotic fluid showed a 6.7Mb duplication of 21q21.1-q21.2 (ranging from position 18,981,715 to 25,707,009) for the fetus.
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| Contributor(s) |
Jin C, Xu T |
| Citation(s) |
34147104 |
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| Submission date |
Jun 04, 2021 |
| Last update date |
Jul 02, 2021 |
| Contact name |
Chunyan Jin |
| E-mail(s) |
gta5857@outlook.com
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| Organization name |
Taizhou People's Hospital
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| Street address |
399 Hailin South Road
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| City |
Taizhou |
| State/province |
Jiangsu |
| ZIP/Postal code |
225300 |
| Country |
China |
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| Platforms (1) |
| GPL18637 |
[CytoScan750K_Array] Affymetrix CytoScan 750K Array |
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| Samples (2) |
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| Relations |
| BioProject |
PRJNA735093 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE176138_RAW.tar |
193.8 Mb |
(http)(custom) |
TAR (of CEL, CYCHP) |
| Processed data provided as supplementary file |
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