[Prenatally diagnosed case of Pallister ‒Killian syndrome].

We report a case of a 36-year-old primipara with second trimester ultrasound markers (polyhydramnion, ventriculomegaly, rhizomelic micromelia, abnormal facial profile). The patient underwent amniocentesis, the conventional karyotyping revealed a supernumerary chromosome in nearly 50 percent of amniocytes. FISH and targeted multicolour FISH probes verified mosaic tetrasomy of the short arm of chromosome 12 of the fetus. Fetopathological examinations and analysis of fetal tissues and blood confirmed the prenatal diagnosis. To our knowledge, this is the first reported case of prenatally diagnosed Pallister-Killian syndrome in Hungary. Orv Hetil. 2018; 159(21): 847-852. PMID: 29779390 [PubMed - in process]
Source: Orvosi Hetilap - Category: General Medicine Authors: Tags: Orv Hetil Source Type: research