 |
 |
GEO help: Mouse over screen elements for information. |
|
| Status |
Public on Jun 30, 2024 |
| Title |
Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
|
| Summary |
Uniparental disomy (UPD) refers to as both homologous chromosomes inherited from only one parent without identical copies from the other parent. Current knowledge of the phenotypes is associated with imprinting disorders or autosomal recessive mutations. Recent studies had reported that UPD for chromosomes 6, 7, 11, 14, 15, and 20 accompanied with definite imprinted disorders. However, the phenotypes and outcomes of UPD with other chromosomes have not been completely identified. Herein, we combined three remarkable UPD patients involving different chromosomes and presented their phenotypes. The chromosomal microarray (CMA) demonstrated a whole homozygous region on chromosome 2 in patient A, on chromosome 9 in patient B, accompanied by a gain mosaic region (ratio:22%) of 19.18Mb in 9p22.2p13.2, and a LOH region on 14q23.2q32.12 and several genes with compound heterozygous mutation were detected in patient C
|
| |
|
| Overall design |
Chromosomal microarray analysis (CMA) were performed using amniotic fluids in prenatal
|
| |
|
| Contributor(s) |
Chen Q, Xu W |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| |
| Submission date |
Jun 27, 2023 |
| Last update date |
Jul 01, 2024 |
| Contact name |
Qi Chen |
| E-mail(s) |
xwl0806@yeah.net
|
| Phone |
+8618252586936
|
| Organization name |
Fourth affiliated hospital of Jiangsu University
|
| Street address |
20 ZHENDONG ROAD
|
| City |
Zhenjiang |
| ZIP/Postal code |
212001 |
| Country |
China |
| |
|
| Platforms (1) |
| GPL18637 |
[CytoScan750K_Array] Affymetrix CytoScan 750K Array |
|
| Samples (3) |
|
| Relations |
| BioProject |
PRJNA987960 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE235878_RAW.tar |
237.7 Mb |
(http)(custom) |
TAR (of CEL, CYCHP) |
| Processed data provided as supplementary file |
|
|
|
|
 |
