Phenotypic and genetic analysis of a boy with partial trisomy of 22q / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 532-534, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-826540
ABSTRACT
OBJECTIVE@#To delineate the nature and origin of chromosomal aberration in a boy with mental retardation and multiple congenital deformities.@*METHODS@#Chromosomal karyotypes of the proband and his parents were determined by routine G-banding analysis. Genomic DNA was also analyzed with single nucleotide polymorphism array (SNP array).@*RESULTS@#The karyotype of the proband was 46,X,add(Y)(q11.23). No karyotypic abnormality was detected in either parent. SNP array has identified a de novo 21.6 Mb duplication at 22q12qter in the proband.@*CONCLUSION@#The de novo 22q12qter duplication probably underlies the abnormalities in the proband.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Trisomy
/
Abnormalities, Multiple
/
Chromosomes, Human, Pair 22
/
Genetic Testing
/
Chromosome Banding
/
Genetics
/
Karyotyping
/
Intellectual Disability
Type of study:
Prognostic study
Limits:
Adult
/
Child
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article
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