Genetic analysis of a child with XYY syndrome mainly featuring mental retardation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 686-689, 2016.
Article
in Chinese
| WPRIM
| ID: wpr-345379
ABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic cause for a boy featuring mainly with mental retardation.</p><p><b>METHODS</b>G-banding karyotyping and fluorescence in situ hybridization (FISH) were carried out for the child and his parents. The child was also analyzed with chromosome microarray (CMA). Suspected microdeletion was validated with quantitative PCR.</p><p><b>RESULTS</b>The proband was found to have a 47,XYY karyotype by both chromosome and FISH analyses, while both of his parents had a normal karyotype. CMA suggested that the proband had one copy of X chromosome and two copies of Y chromosome. In addition, CMA has also detected deletion of the KYNU gene (mapped at 2q22.2), which could be pathogenic. The result was confirmed by qPCR.</p><p><b>CONCLUSION</b>For its high resolution, CMA can be used to identify potential microdeletion/duplications among children with chromosome aneuploidy and unusual phenotypes.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
XYY Karyotype
/
Chromosome Banding
/
In Situ Hybridization, Fluorescence
/
Oligonucleotide Array Sequence Analysis
/
Polymorphism, Single Nucleotide
/
Sex Chromosome Disorders
/
Diagnosis
/
Genetics
/
Karyotyping
/
Intellectual Disability
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Type:
Article
Similar
MEDLINE
...
LILACS
LIS