title: Prenatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: a case report of Pallister-Killian syndrome.
abstract: A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes p alpha 12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister-Killian syndrome.
authors: Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands.
authors: F J
authors: FJ
authors: Los
authors: D
authors: D
authors: Van Opstal
authors: M P
authors: MP
authors: Schol
authors: J L
authors: JL
authors: Gaillard
authors: H
authors: H
authors: Brandenburg
authors: A M
authors: AM
authors: Van Den Ouweland
authors: P A
authors: PA
authors: in 't Veld
mesh_terms: D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12; D004247:DNA / Q000032:analysis; D015342:DNA Probes; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008423:Maternal Age; D009030:Mosaicism; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D011296:Prenatal Diagnosis; D013577:Syndrome; D014314:Trisomy
chemical_list: D015342:DNA Probes; D004247:DNA