[Genetic diagnosis of a child with aortic stenosis and thumb aplasia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(4): 531-534, 2018 Aug 10.
Article
in Zh
| MEDLINE
| ID: mdl-30098250
ABSTRACT
OBJECTIVE:
To analyze the molecular mechanism and prognosis of a child with aortic stenosis and thumb aplasia.METHODS:
The karotypes of the child and his parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization(aCGH) for chromosomal duplications/deletions.RESULTS:
No karyotypic abnormality was detected at cytogenetic level for the child and his parents. aCGH identified a de novo 5.86 Mb deletion at 2q22.3-q23.3 in the child.CONCLUSION:
The child was diagnosed with 2q23.1 microdeletion syndrome. MBD5 may be the key gene for the 2q23.1 microdeletion syndrome.
Full text:
1
Database:
MEDLINE
Main subject:
Aortic Valve Stenosis
/
Thumb
/
Chromosomes, Human, Pair 2
/
Chromosome Disorders
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Child
/
Humans
/
Male
Language:
Zh
Journal:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Journal subject:
GENETICA MEDICA
Year:
2018
Type:
Article
Affiliation country:
China