Clinical and genetic analysis of three pediatric patients with 15q24 microdeletion syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 672-675, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-771942
ABSTRACT
OBJECTIVE@#To explore the genetic basis for three patients with development delay and to correlate their clinical phenotypes with genetic findings.@*METHODS@#The karyotypes of the probands and their parents were analyzed by conventional G-banding. Chromosomal microarray analysis (CMA) was used to detect microdeletion and microduplication.@*RESULTS@#No kartotypic abnormality was detected in the patients and their parents. CMA analysis identified a de novo 3.10 Mb deletion on chromosome 15q24.1q24.2 in case 1, a de novo 3.14 Mb deletion at 15q24.1q24.2 in case 2, and a 3.13 Mb deletion at 15q24.1q24.2 in case 3. All deletions have encompassed the CPLX3,SEMA7A and SIN3A genes.@*CONCLUSION@#The three patients were diagnosed with 15q24 microdeletion syndrome. CPLX3,SEMA7A and SIN3A may be the key genes responsible for this syndrome.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Repressor Proteins
/
Chromosomes, Human, Pair 15
/
Antigens, CD
/
Chromosome Deletion
/
Chromosome Disorders
/
Semaphorins
/
Adaptor Proteins, Signal Transducing
/
GPI-Linked Proteins
/
Genetics
/
Intellectual Disability
Type of study:
Prognostic study
Limits:
Child
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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