49, XXXYY: Parental Origin, Occurrence, and Clinical Phenotypes
49, XXXYY is a rare form of sex chromosomal aneuploidy that has been reported in 11 cases worldwide. The parental origin of the extra sex chromosomes and the specific clinical features of this condition remain unclear. We recruited a case with 49, XXXYY and performed genome-wide copy number variatio...
Saved in:
| Main Authors: | Yufang Du, Liangrong Liao, Xianda Wei, Yunting Ma, Meizhen Shi, Chunyan Li, Juliang Liu, Wenting Lin, Hao Zeng, Shaoke Chen, Baoheng Gui |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-01-01
|
| Series: | Genetics Research |
| Online Access: | http://dx.doi.org/10.1155/genr/1368153 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
A case of 49,XXXYY followed-up from infancy to adulthood with review of literature
by: Junko Kanno, et al.
Published: (2024-07-01) -
The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping
by: Yunting Ma, et al.
Published: (2024-09-01) -
The rare hemoglobin variants Hb O-Arab and Hb D-Punjab identified in population-based genetic screening throughout Guangxi, China
by: Chunrong Gui, et al.
Published: (2025-08-01) -
Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort
by: Yiyun Huang, et al.
Published: (2025-07-01) -
Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review
by: Lixia Zhan, et al.
Published: (2023-07-01)