IMR Press / CEOG / Volume 38 / Issue 3 / pii/1630542846448-1388924171

Clinical and Experimental Obstetrics & Gynecology (CEOG) is published by IMR Press from Volume 46 Issue 1 (2019). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on as a courtesy and upon agreement with S.O.G.

Open Access Case Report
Amniocentesis can be useful during the third trimester of pregnancy for antenatal diagnosis of Pallister-Killian syndrome: a case report
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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.
Pallister-Killian syndrome
Mosaic tetrasomy 12p
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