|
KMID : 0894520180220020199
|
|
Development & Reproduction
2018 Volume.22 No. 2 p.199 ~ p.203
|
|
|
Prenatally Diagnosed Rare Trisomy 16 Mosaicism in Human Amniotic Fluid Cells in the Second Trimester: A Case Report
|
|
Kim Sook-Ryung
Choi Eun-Jung
Kim Young-Joo
Kim Tae-Yoon
Lee Young-Jin
|
|
|
Abstract
|
|
|
|
Although trisomy 16 is commonly detected in spontaneous abortions and accounts for over 30% of cases of autosomal trisomy detected after spontaneous abortion, trisomy 16 mosaicism is rarely detected by amniocentesis in the second trimester. Here, we report a case of level III trisomy 16 mosaicism (47,XX,+16[8]/46,XX[31]) diagnosed by cytogenetic analysis of independently cultured amniotic fluid cells. The female baby was delivered at full term with low birth weight and intrauterine growth retardation, and interestingly, her karyotype was normal (46,XX). Given the difficulty in predicting the outcomes of fetuses with this mosaicism, it is recommended to inform the possibility of mosaicisms including this trisomy 16 mosaicism during prenatal genetic diagnosis and genetic counseling for parents.
|
|
|
KEYWORD
|
|
|
Prenatal cytogenetic diagnosis, Trisomy 16, Mosaicism, Amniocentesis
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|