Clinical and genetic analysis of three pediatric patients with 15q24 microdeletion syndrome / 中华医学遗传学杂志
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; (6): 672-675, 2019.
Article
de Zh
| WPRIM
| ID: wpr-771942
Bibliothèque 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.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Protéines de répression
/
Chromosomes humains de la paire 15
/
Antigènes CD
/
Délétion de segment de chromosome
/
Maladies chromosomiques
/
Sémaphorines
/
Protéines adaptatrices de la transduction du signal
/
Protéines liées au GPI
/
Génétique
/
Déficience intellectuelle
Type d'étude:
Prognostic_studies
Limites du sujet:
Child
/
Humans
langue:
Zh
Texte intégral:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Année:
2019
Type:
Article