Study of two cases of prenatally detected small supernumerary marker chromosomes.
- Author:
Yan ZENG
1
;
Jiaming FAN
;
Ping XU
;
Lifang ZHANG
;
Feiyan QIAN
;
Tingting LUO
Author Information
- Publication Type:Case Reports
- MeSH: 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
- From: Chinese Journal of Medical Genetics 2016;33(4):498-500
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo determine the origin of two prenatally detected small supernumerary marker chromosomes (sSMCs).
METHODSThe sSMCs were analyzed with combined G-banding, C-banding, fluorescence in situ hybridization (FISH), and single nucleotide polymorphisms array (SNP-array) techniques.
RESULTSIn 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.
CONCLUSIONMultiple techniques needed be applied for verification of the origin of sSMCs identified in prenatal diagnosis.
