Detection of mosaic trisomy 9 missed by conventional cytogenetics using SNP-array and fluorescence in situ hybridization.
- Author:
Yuqin LUO
1
;
Songzhang CHEN
;
Hongge LI
;
Lin PAN
;
Min SHEN
;
Fan JIN
;
Chenming XU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Chromosomes, Human, Pair 9; genetics; Female; Humans; In Situ Hybridization, Fluorescence; Infant; Male; Mosaicism; embryology; Oligonucleotide Array Sequence Analysis; instrumentation; methods; Polymorphism, Single Nucleotide; Pregnancy; Prenatal Diagnosis; Trisomy; diagnosis; genetics; Uniparental Disomy; cytology; diagnosis; genetics
- From: Chinese Journal of Medical Genetics 2014;31(4):469-471
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect mosaic trisomy 9 missed by conventional cytogenetics.
METHODSPeripheral blood genomic DNA from a girl with mental retardation was analyzed using Affymetrix CytoScan (TM) HD array. Fluorescence in situ hybridization (FISH) was also performed on samples from two patients.
RESULTSThe SNP-array analysis has revealed multiple duplications along chromosome 9. FISH analysis showed that, for the peripheral blood sample from one patient, 40 of 100 interphase cells and 15 of 100 metaphase cells carried trisomy 9. For the cord blood sample from another patient, 35 of 100 interphase cells and 10 of 100 cultured cells carried trisomy 9.
CONCLUSIONSNP-array is useful for detecting low-level mosaicism which may be missed by conventional cytogenetics. Combined with karyotype and microarray analyses, FISH is a focused and targeted approach for diagnosing mosaic trisomy. They may provide a useful tool for differentiating pseudomosaicisms from true mosaicisms.
