The Chromosomal microarray analysis (CMA) uncovered a single copy (hemizygous) deletion of 2.9 Mb at 22q11.2: arr 22q11.21(18,166,089_21,110,475)x1
| Title | The Chromosomal microarray analysis (CMA) uncovered a single copy (hemizygous) deletion of 2.9 Mb at 22q11.2: arr 22q11.21(18,166,089_21,110,475)x1 |
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| Description | We present a case of hepatoblastoma in children with 22q11.2DS.A noticeable facial asymmetry was observed when crying at birth. At 2 months of age, he had a diagnosis of congenital heart defect consisting of atrial septal defect, ventricular septal defect, patent ductus arteriosus and pulmonary hypertension.The Chromosomal microarray analysis (CMA) confirmed the diagnosis and uncovered a single copy (hemizygous) deletion of 2.9 Mb at 22q11.2: arr 22q11.21(18,166,089_21,110,475)x1 |
| Organism | Homo sapiens |
| Data Type | Genome binding/occupancy profiling by Array |
| Data Accessibility | Controlled-access |
| BioProject | PRJCA022458 |
| Release Date | 2024-08-03 |
| Submitter | liying Liu (13325116026@163.COM) |
| Organization | Shandong Provincial Hospital |
| Submission Date | 2023-12-29 |
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 |
|---|---|---|---|---|---|---|---|
| OMIX005511-02 | Chromosomal microarray analysis of 22 q11.2 DS | 1 | Genome binding/occupancy profiling by Array | 25.9 MB | zip | 0 | Unavailable |