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Amniocentesis can be useful during the third trimester of pregnancy for antenatal diagnosis of Pallister-Killian syndrome: a case report
1 Department of Obstetrics and Gynecology, Kagawa National Children’s Hospital
2 Department of Obstetrics and Gynecology, Institute of Health Biosciences, The University of Tokushima Graduate School, Kagawa (Japan)
Clin. Exp. Obstet. Gynecol. 2011, 38(3), 269–271;
Published: 10 September 2011
Pallister-Killian syndrome (PKS) is an extremely rare genetic disease characterized cytogenetically by tetrasomy 12p mosaicism. We recently encountered a case of maternal hydramnios associated with congenital diaphragm hernia according to the prenatal diagnosis. Prenatal diagnosis revealed a non-mosaic 47, XY, i(12)(p10) karyotype at amniocentesis of G-band and M-FISH analysis. We performed chromosomal analysis in both interphase and metaphase cells from a cord blood lymphocyte specimen. Mosaic tetrasomy of chromosome 12p was supported by G-banding or FISH analysis. When fetal observations are performed in detail using 2D/3D US, PKS may be diagnosed. In addition, it is effective to perform amniocentesis during the third trimester of pregnancy.
Mosaic tetrasomy 12p