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
en Zh
| WPRIM
| ID: wpr-771942
Biblioteca responsable:
WPRO
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.
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Proteínas Represoras
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Cromosomas Humanos Par 15
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Antígenos CD
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Deleción Cromosómica
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Trastornos de los Cromosomas
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Semaforinas
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Proteínas Adaptadoras Transductoras de Señales
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Proteínas Ligadas a GPI
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Genética
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Discapacidad Intelectual
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Article