| 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 |
| 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 |