Molecular and cytogenetic study on 18 cases of amenorrhea: the use of fluorescence in situ hybridization and high resolution-comparative genomic hybridization / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 256-260, 2007.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-247340
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To explore the use of fluorescence in situ hybridization (FISH) and high resolution-comparative genomic hybridization (HR-CGH) techniques in amenorrhea study.</p><p><b>METHODS</b>After routine gynecologic examination, ultrasonography and endocrine examination, 17 cases of primary amenorrhea and 1 case of secondary amenorrhea were analysed by using chromosomal diagnoses including multiplex FISH and HR-CGH analyses.</p><p><b>RESULTS</b>Among 17 cases of primary amenorrhea, 7 revealed a 46,XX karyotype; 10 cases (58.8%) had abnormal karyotype, including 3 cases of 46,XY females, 2 cases of Turner's syndrome with 45,X and 45,X/46,XX, and other 5 cases with abnormal structure of X chromosome (including partial monosomy of X,X isochromosome and X/Y mosaic). The karyotype of the patient with secondary amenorrhea was translocation between X chromosome and euchromosome.</p><p><b>CONCLUSION</b>The using of FISH and HR-CGH can correctly diagnose the patients' karyotypes, and provide absolutely necessarily medical genetic data for clinical diagnosis and therapy.</p>
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Pathology
/
Chromosome Aberrations
/
Chromosomes, Human
/
In Situ Hybridization, Fluorescence
/
Diagnosis
/
Comparative Genomic Hybridization
/
Amenorrhea
/
Genetics
/
Karyotyping
Type of study:
Diagnostic study
Limits:
Adolescent
/
Adult
/
Female
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2007
Document type:
Article