| Accession |
PRJCA019803 |
| Title |
Exome and Genome Sequencing to Unravel the Precise Breakpoints of Partial Trisomy 6q and Partial Monosomy 2q |
| Relevance |
Medical |
| Data types |
Whole genome sequencing
Exome
|
| Organisms |
Homo sapiens
|
| Description |
Here, we combine exome and genome sequencing techniques to secure the precise breakpoints of heterozygous microduplications in the 6q 25.3-q27 region and microdeletions in the 2q37.1-q37.3 region in a proband. The 5-year-old girl exhibited a severe form of congenital cranial dysinnervation disorders(CCDD), in addition to skeletal dysmorphism anomalies and severe intellectual disability. This is the second case affecting chromosomes 2q and 6q. The individual's karyotype showed an unbalanced translocation 46,XX,del(2)t(2;6)(q37.1;q25.3), which was inherited from her unaffected father 46,XY,t(2;6)(q37.1;q25.3). We also get the precise breakpoint of de novo heterozygous copy number deletion with del(2)(q37.1q37.3)chr2:g.232963568_24305260del and copy number duplication with dup(6)(q25.3q27)chr6:g.158730978_170930050dup. |
| Sample scope |
Multiisolate |
| Release date |
2023-09-19 |
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| National Natural Science Foundation of China (NSFC)
|
|
82060183
|
|
| Ningxia Natural Science Foundation
|
|
2022AAC03388
|
|
| the Key Research and Development Project of Ningxia Hui Autonomous Region
|
|
2021BEG02045
|
|
| Ningxia Natural Science Foundation
|
|
2022AAC03388
|
|
|
|
| Submitter |
Shuang
Zhang (shuang923@aliyun.com)
|
| Organization |
People's Hospital of Ningxia Hui Autonomous Region,Ningxia Medical University |
| Submission date |
2023-09-15 |
