Genetic analysis of a supernumerary derivative chromosome 15 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 77-81, 2012.
Article
in Chinese
| WPRIM
| ID: wpr-295528
ABSTRACT
<p><b>OBJECTIVE</b>To detect and analyze a supernumerary derivative chromosome 15 with combined cytogenetic and molecular techniques, and to discuss the correlation between genomic copy number variations (CNVs) and clinical phenotypes.</p><p><b>METHODS</b>G-banded chromosome analysis and multiplex ligation-dependent probe amplification (MLPA) were carried out. The whole genome of the patient was also analyzed with array-comparative genome hybridization(array-CGH).</p><p><b>RESULTS</b>G-banding analysis indicated that the patient has a karyotype of 47, XY, + mar, with the supernumerary chromsome derived from 15q11-13 region spanning 9.8 Mb from locus 20477397 to 30298155.</p><p><b>CONCLUSION</b>CNVs of 15q11-13 are associated with mental retardation, language development delay and autistic disorder. Conventional cytogenetic analysis with array-CGH may provide a platform for accurate detection of chromosomal aberrations, which can faciliate the study of genome rearrangement underlying various diseases.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Chromosomes, Human, Pair 15
/
Chromosome Disorders
/
Cytogenetic Analysis
/
DNA Copy Number Variations
/
Genetics
/
Methods
Limits:
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2012
Type:
Article
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