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.
Artículo
en Chino
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Cromosomas Humanos Par 17
/
Deleción Cromosómica
/
Hibridación Genómica Comparativa
/
Síndrome de Smith-Magenis
/
Duplicación Cromosómica
/
Genética
/
Cariotipificación
Tipo de estudio:
Estudio diagnóstico
Límite:
Niño
/
Femenino
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
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