[Application of single nucleotide polymorphism microarray and fluorescence in situ hybridization analysis for the prenatal diagnosis of a case with Pallister-Killian syndrome]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):232-235. doi: 10.3760/cma.j.issn.1003-9406.2018.02.019.
[Article in Chinese]

Abstract

Objective: To explore the clinical and genetic characteristics of a case with Pallister-Killian syndrome (PKS).

Methods: 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.

Results: 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.

Conclusion: 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.

Publication types

  • Case Reports

MeSH terms

  • 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*

Supplementary concepts

  • Pallister Killian syndrome