title: Amniocentesis can be useful during the third trimester of pregnancy for antenatal diagnosis of Pallister-Killian syndrome: a case report.
abstract: 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.
authors: Department of Obstetrics and Gynecology, Kagawa National Children's Hospital, Kagawa, Japan. rohi3791@yahoo.co.jp
authors: M
authors: M
authors: Murakami
authors: T
authors: T
authors: Iwasa
authors: Y
authors: Y
authors: Takahashi
authors: M
authors: M
authors: Morine
mesh_terms: D000328:Adult; D000649:Amniocentesis; D025063:Chromosome Disorders / Q000175:diagnosis*; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006548:Hernia, Diaphragmatic / Q000000981:diagnostic imaging; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D006831:Polyhydramnios / Q000000981:diagnostic imaging; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D011296:Prenatal Diagnosis; D014463:Ultrasonography