[Study of two cases of prenatally detected small supernumerary marker chromosomes]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Aug;33(4):498-500. doi: 10.3760/cma.j.issn.1003-9406.2016.04.015.
[Article in Chinese]

Abstract

Objective: To determine the origin of two prenatally detected small supernumerary marker chromosomes (sSMCs).

Methods: The sSMCs were analyzed with combined G-banding, C-banding, fluorescence in situ hybridization (FISH), and single nucleotide polymorphisms array (SNP-array) techniques.

Results: In case 1, G-banding analysis has identified a 47,XY,+mar karyotype. Affymetrix CytoScan 750K Array scan has suggested arr 15q11.2q12(22 770 421-26 604 587)?, while FISH analysis suggested 47,XN,+mar.ish i(15)(q12)(D15Z1+,SNRPN++,PML-). In case 2, G-banding analysis has suggested 46,X,+mar/46,XY, FISH analysis showed two SRY hybridization signals, indicating 46,X,i(Y)(p10)/46,XY.

Conclusion: Multiple techniques needed be applied for verification of the origin of sSMCs identified in prenatal diagnosis.

Publication types

  • Case Reports
  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosome Aberrations*
  • Chromosome Banding
  • Female
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Multiplex Polymerase Chain Reaction
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide
  • Prenatal Diagnosis*

Substances

  • Genetic Markers