Genetic analysis of a child with atypical Williams-Beuren syndrome presenting as supravalvular aortic stenosis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 475-478, 2020.
Article
in Zh
| WPRIM
| ID: wpr-826551
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child with supravalvular aortic stenosis.@*METHODS@#The child and his parents were subjected to conventional G-banding karyotyping, array comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA) analysis.@*RESULTS@#No karyotypic abnormality was detected in the child and his parents. aCGH has identified a de novo 278 kb deletion encompassing the ELN gene in 7q11.23, which overlapped with the critical region of Williams-Beuren syndrome (WBS). MLPA has confirmed above findings.@*CONCLUSION@#The proband was diagnosed with atypical WBS. Deletion of the ELN gene may predispose to supravalvular aortic stenosis in the proband.
Full text:
1
Index:
WPRIM
Main subject:
Chromosomes, Human, Pair 7
/
Genetic Testing
/
Chromosome Banding
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Gene Deletion
/
Williams Syndrome
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Aortic Stenosis, Supravalvular
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Comparative Genomic Hybridization
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Genetics
Type of study:
Prognostic_studies
Limits:
Child
/
Humans
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article