Genetic diagnosis of a child with Smith-Magenis syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 724-726, 2019.
Article
Dans Chinois
| WPRIM
| ID: wpr-776820
ABSTRACT
OBJECTIVE@#To explore the molecular mechanism of a girl with developmental delay and intellectual disability.@*METHODS@#Chromosomal karotypes of the child and her parents were analyzed with routine G-banding method. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH) for chromosomal duplications/deletions.@*RESULTS@#No karyotypic abnormality was detected in the child and her parents, while aCGH has identified a de novo 3.37 Mb deletion at 17p11.2 in the child.@*CONCLUSION@#The child was diagnosed with Smith-Magenis syndrome, for which RAI1 may be the causative gene.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Chromosomes humains de la paire 17
/
Délétion de segment de chromosome
/
Hybridation génomique comparative
/
Syndrome de Smith-Magenis
/
Duplication chromosomique
/
Génétique
/
Caryotypage
Type d'étude:
Etude diagnostique
Limites du sujet:
Enfant
/
Femelle
/
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2019
Type:
Article
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