A Case of Constitutional Trisomy 8 Mosaicism / 영남의대학술지
Yeungnam University Journal of Medicine
;
: 241-246, 2005.
Article
in English
| WPRIM
| ID: wpr-162071
ABSTRACT
Constitutional trisomy 8 is a relatively rare aneuploidy; most identified cases are mosaic with a normal cell line. The phenotype is highly variable from apparently normal to severe disability. The proportion of abnormal cells is dramatically different between tissues and the severity of the phenotype is not directly related to the level of mosaicism. Therefore, it is very difficult to provide a definitive prognosis. We report here a case of constitutional trisomy 8 mosaicism with agenesis of the corpus callosum, congenital heart disease and micrognathia. The trisomy 8 cell line was not detected by prenatal cytogenetic study. This is the fourth reported case of constitutional trisomy 8 mosaicism in Korea.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Prognosis
/
Trisomy
/
Cell Line
/
Corpus Callosum
/
Cytogenetics
/
Heart Defects, Congenital
/
Korea
/
Aneuploidy
/
Mosaicism
Type of study:
Prognostic study
Country/Region as subject:
Asia
Language:
English
Journal:
Yeungnam University Journal of Medicine
Year:
2005
Type:
Article
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