Pallister-Killian syndrome diagnosed by chorionic villus sampling
- 1 July 1991
- journal article
- case report
- Published by Wiley in Prenatal Diagnosis
- Vol. 11 (7) , 477-479
- https://doi.org/10.1002/pd.1970110712
Abstract
The first prenatal diagnosis of Pallister-Killian syndrome by chorionic villus sampling is presented. Fetal hydrops was noted on ultrasound in early pregnancy, and the karyotype revealed isochromosome 12p mosaicism.Keywords
This publication has 7 references indexed in Scilit:
- Prenatal diagnosis of Pallister‐Killian syndromeAmerican Journal of Medical Genetics, 1990
- Risk effect of maternal age in Pallister i(12p) syndromeClinical Genetics, 1988
- Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p)) and a marked LDH‐B gene dosage effectClinical Genetics, 1987
- Mosaic tetrasomy 12p: Four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister‐Mosaic syndrome casesAmerican Journal of Medical Genetics, 1987
- Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister‐Killian syndrome): Report of 11 casesAmerican Journal of Medical Genetics, 1987
- Mosaic tetrasomy 12pClinical Genetics, 1985
- Prenatal diagnosis of tetrasomy 21Prenatal Diagnosis, 1985