A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister‐Killian syndrome)
- 1 June 1992
- journal article
- case report
- Published by Wiley in Prenatal Diagnosis
- Vol. 12 (6) , 529-534
- https://doi.org/10.1002/pd.1970120608
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.Keywords
This publication has 11 references indexed in Scilit:
- Tetrasomy 12p (Pallister-Killian syndrome).Journal of Medical Genetics, 1991
- Prenatal diagnosis of Pallister‐Killian syndromeAmerican Journal of Medical Genetics, 1990
- Prenatal diagnosis of tetrasomy 47,XY, + i(12p) confirmed by in situ hybridizationPrenatal Diagnosis, 1988
- Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p)) and a marked LDH‐B gene dosage effectClinical Genetics, 1987
- Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister‐Killian syndrome): Report of 11 casesAmerican Journal of Medical Genetics, 1987
- Mosaic isochromosome 12pAmerican Journal of Medical Genetics, 1987
- Mosaic tetrasomy 12pClinical Genetics, 1985
- The characteristic physiognomy and tissue specific karyotype distribution in the Pallister‐Killian syndromeClinical Genetics, 1985
- Prenatal diagnosis of tetrasomy 21Prenatal Diagnosis, 1985
- Ultrasound movement patterns of fetuses with chromosome anomaliesPrenatal Diagnosis, 1982