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
in Zh
| WPRIM
| ID: wpr-776820
Responsible library:
WPRO
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.
Full text:
1
Index:
WPRIM
Main subject:
Chromosomes, Human, Pair 17
/
Chromosome Deletion
/
Comparative Genomic Hybridization
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Smith-Magenis Syndrome
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Chromosome Duplication
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Genetics
/
Karyotyping
Type of study:
Diagnostic_studies
Limits:
Child
/
Female
/
Humans
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article