Application of single nucleotide polymorphism microarray and fluorescence in situ hybridization analysis for the prenatal diagnosis of a case with Pallister-Killian syndrome.
- Author:
Wenling ZHANG
1
;
Zhichao GUO
;
Weiwei WANG
;
Yonghui SUN
;
Chenxi ZHANG
;
Xiaofei WANG
;
Liwen ZHANG
;
Chengbin WANG
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Chromosome Banding; Chromosome Disorders; diagnosis; Chromosomes, Human, Pair 12; Female; Humans; In Situ Hybridization, Fluorescence; methods; Karyotyping; Oligonucleotide Array Sequence Analysis; Polymorphism, Single Nucleotide; Pregnancy; Prenatal Diagnosis; methods
- From: Chinese Journal of Medical Genetics 2018;35(2):232-235
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the clinical and genetic characteristics of a case with Pallister-Killian syndrome (PKS).
METHODSChromosomal 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.
RESULTSG-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.
CONCLUSIONCombined 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.
