%0 Case Reports
%T [Application of single nucleotide polymorphism microarray and fluorescence in situ hybridization analysis for the prenatal diagnosis of a case with Pallister-Killian syndrome].
%A Zhang W
%A Guo Z
%A Wang W
%A Sun Y
%A Zhang C
%A Wang X
%A Zhang L
%A Wang C
%J Zhonghua Yi Xue Yi Chuan Xue Za Zhi
%V 35
%N 2
%D Apr 2018 10
%M 29652999
暂无%R 10.3760/cma.j.issn.1003-9406.2018.02.019
%X <B>OBJECTIVE: </B>To explore the clinical and genetic characteristics of a case with Pallister-Killian syndrome (PKS).<BR><B>METHODS: </B>Chromosomal karyotype of umbilical cord blood sample derived from a 36-year-old pregnant woman was analyzed by G-banding analysis. After birth, the child was further analyzed with single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) using 12pter/12qter probes.<BR><B>RESULTS: </B>G-banding analysis showed that the fetus has a karyotype of 46,XY [77]/47,XY,+mar [23]. After birth, Affymetrix CytoScan 750K array analysis showed a segmental tetrasomy of arr [hg19] 12p13.33p11.1(173 786 - 34 835 641)×4 and a 34.6 Mb repeat at 12p13.33p11.1 with in the neonate. FISH analysis confirmed that 39% of cells harbored the 12p tetrasomy.<BR><B>CONCLUSIONS: </B>Combined clinical examination, G-banded chromosomal karyotyping, FISH and microarray analysis can delineate the origin and fragments of small supernumerary marker chromosomes and diagnose PKS with precision.