Prenatal diagnosis of Kagami Ogata syndrome in a Chinese family
| Title | Prenatal diagnosis of Kagami Ogata syndrome in a Chinese family |
|---|---|
| Description | The aim was to explore the genetic cause of the proband presenting with polyhydramnios and gastroschisis. Copy number variation sequencing (CNV-seq), methylation-specific multiplex PCR (MS-PCR), and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) were used to characterize the genetic etiology. |
| Organism | Homo sapiens |
| Data Type | Methylation profiling by Array |
| Data Accessibility | Controlled-access |
| BioProject | PRJCA010838 |
| Release Date | 2022-07-29 |
| Submitter | Minyue Dong (dongmy@zju.edu.cn) |
| Organization | Women's hospital, School of Medicine, Zhejiang University |
| Submission Date | 2022-07-28 |
The data cannot be downloaded as it has not yet been registered in the Human Genetic Resource Management Platform of MOST.
| File ID | File Title | Number/Samples | File Type | File Size | File Suffix | Download Times | Download |
|---|---|---|---|---|---|---|---|
| OMIX001407-01 | MS-MLPA | 4 | Methylation profiling by Array | 168.2 KB | rar | 0 | Unavailable |
| OMIX001407-03 | B ultrasound results | 1 | Methylation profiling by Array | 4.4 MB | rar | 0 | Unavailable |