Application of array comparative genomic hybridization in prenatal diagnosis of a case with 5q35 deletion syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 240-243, 2017.
Article
in Chinese
| WPRIM
| ID: wpr-335146
ABSTRACT
<p><b>OBJECTIVE</b>To use combined G-banding and array-comparative genomic hybridization (aCGH) for the prenatal diagnosis of a fetus with 5q35 deletion syndrome.</p><p><b>METHODS</b>Chromosomal karotypes of the fetus and parents were analyzed with G-banding analysis. aCGH was performed to detect minor chromosomal structural abnormalities.</p><p><b>RESULTS</b>The karyotype of the fetus was ascertained as 46, XY, t(5;10)(q35;p13), and the karyotypes of the parents were normal. aCGH has identified a de novo 1.68 Mb deletion at 5q35.2q35.3 and a 1.44 Mb duplication at 10p14p13.</p><p><b>CONCLUSION</b>aCGH has a higher resolution and greater accuracy for mapping chromosomal aberrations and is a useful supplement for G banding karyptyping analysis.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Trisomy
/
Chromosomes, Human, Pair 5
/
Embryology
/
Chromosome Banding
/
Chromosome Deletion
/
Cri-du-Chat Syndrome
/
Diagnosis
/
Comparative Genomic Hybridization
/
Fetal Diseases
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2017
Type:
Article
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