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Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing
- Source :
- Clinical Case Reports, Vol 8, Iss 6, Pp 1076-1080 (2020), Clinical Case Reports
- Publication Year :
- 2020
- Publisher :
- Wiley, 2020.
-
Abstract
- We report a Japanese girl with Coffin‐Lowry syndrome phenotype such as hypertelorism, hypodontia, and tapering fingers and 46,XX,t(X;11)(p22;p15)dn. Whole genome sequencing revealed RPS6KA3 disruption by the translocation, and X‐inactivation analysis indicated preferential inactivation of the normal X chromosome. The results explain the development of an X‐linked disease in this girl.
- Subjects :
- translocation
lcsh:Medicine
Case Report
Chromosomal translocation
Case Reports
030204 cardiovascular system & hematology
03 medical and health sciences
0302 clinical medicine
RPS6KA3
medicine
Hypertelorism
X chromosome
Genetics
Whole genome sequencing
whole genome sequencing
lcsh:R5-920
Coffin–Lowry syndrome
business.industry
lcsh:R
General Medicine
medicine.disease
Phenotype
Hypodontia
030220 oncology & carcinogenesis
medicine.symptom
lcsh:Medicine (General)
business
Coffin‐Lowry syndrome
Subjects
Details
- ISSN :
- 20500904
- Volume :
- 8
- Database :
- OpenAIRE
- Journal :
- Clinical Case Reports
- Accession number :
- edsair.doi.dedup.....5a102628cd120558cd73b8198876a65e