title: A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome)
abstract: A case of mosaic tetrasomy 12p was detected in amniotic fluid cell cultures from a 28-year-old woman referred to us at 26 weeks' gestation because of hydramnios. The fetus was shown on ultrasonography to have an omphalocele and a short femur length. Labour was induced at 32 weeks. An infant with multiple congenital anomalies was delivered and died after 10 min. The diagnosis of i(12p) or Pallister-Killian syndrome was confirmed cytogenetically in fibroblast and lymphocyte cultures. Increased LDH-B activity was demonstrated in fibroblasts.
authors.affiliation: Unidad de Diagnostico Prenatal, Hospital de Cruces, Bilbao, Spain.
authors.forename: M I
authors.initials: MI
authors.lastname: Tejada
authors.forename: A
authors.initials: A
authors.lastname: Uribarren
authors.forename: P
authors.initials: P
authors.lastname: Briones
authors.forename: M A
authors.initials: MA
authors.lastname: Vilaseca
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006554:Hernia, Umbilical / Q000000981:diagnostic imaging; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D006831:Polyhydramnios / Q000000981:diagnostic imaging; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D016216:Ultrasonography, Prenatal