Chromosomal microarray analysis of 2000 pediatric cases / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 247-251, 2016.
Article
in Chinese
| WPRIM
| ID: wpr-247695
ABSTRACT
<p><b>OBJECTIVE</b>To assess the feasibility of chromosomal microarray analysis(CMA) for studying the correlation between birth defects and chromosomal aberrations.</p><p><b>METHODS</b>A total of 2000 patients with birth defects were recruited for the CMA testing.</p><p><b>RESULTS</b>Five hundred twenty two patients (26.1%) were found to have chromosomal abnormalities. These included 24 cases with numerical abnormalities, 11 with mosaicisms, and 11 with uniparental disomies. The remaining 476 cases were of well-known microdeletion or microduplication syndromes. The advantage of CMA over conventional karyotyping was demonstrated in many cases.</p><p><b>CONCLUSION</b>As a powerful tool for patients with birth defects, CMA can produce a higher diagnostic yield compared with conventional karyotyping.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Chromosomes, Human
/
Gene Dosage
/
Oligonucleotide Array Sequence Analysis
/
Chromosome Disorders
/
Genetics
/
Karyotyping
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Infant, Newborn
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Type:
Article
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