SNP array and cytogenetic analysis of a patient with unexplained mental retardation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 332-334, 2016.
Article
in Chinese
| WPRIM
| ID: wpr-247679
ABSTRACT
<p><b>OBJECTIVE</b>To analyze a patient with unexplained mental retardation by using three primer PCR (TP-PCR) and single nucleotide polymorphisms array (SNP-array), and to correlate the genotype with phenotype.</p><p><b>METHODS</b>Peripheral blood sample was taken from the patient for the extraction of DNA. TP-PCR was used to determine the copy number of CGG repeats in the 5'UTR of the FMR1 gene. SNP array was used for high resolution analysis of the patient's genome.</p><p><b>RESULTS</b>TP-PCR has shown no abnormal amplification of CGG in the 5'UTR of FMR1 gene. Hence, Fragile X syndrome was excluded as the cause for mental retardation. SNP array analysis has identified a 0.93 Mb duplication at 7q36.1-q36.2 and a 2.2 Mb deletion at 12p13.1-p13.2 in the patient.</p><p><b>CONCLUSION</b>The microduplication and microdeletion discovered in the patient probably underlies the intelligence disability. The high-resolution SNP array can provide accurate information for the identification of pathogenesis, and is the preferred method for the diagnosis of unexplained mental retardation.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Oligonucleotide Array Sequence Analysis
/
Cytogenetic Analysis
/
Polymorphism, Single Nucleotide
/
Fragile X Mental Retardation Protein
/
Genetics
/
Intellectual Disability
Type of study:
Prognostic study
Limits:
Child
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Type:
Article
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