1 results match your criteria: "Maternal and Child Health Care Hospital of Inner Mongolia Autonomous Region[Affiliation]"
[Prenatal diagnosis of a fetus with Pallister-Killian syndrome with combined cytogenetic and molecular methods].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
November 2020
Department of Genetics and Birth Health, Maternal and Child Health Care Hospital of Inner Mongolia Autonomous Region, Hohhot, Inner Mongolia Autonomous Region 010021, China.
Objective: To carry out prenatal diagnosis for a fetus with Pallister-killian syndrome (PKS).
Methods: The fetus was found to have limb malformations at 23rd gestational week. With informed consent from its parents, amniotic fluid sample was taken from the fetus and subjected to chromosomal karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) assay.