Application of chromosome microarray analysis for prenatal diagnosis of a fetus with partial duplication of 1p and uniparental disomy of chromosome 6.
- VernacularTitle:染色体微阵列芯片检测一例1p部分重复嵌合体伴6号染色体单亲二倍体胎儿
- Author:
Ruifang ZHU
1
;
Xiangyu ZHU
;
Yaping WANG
;
Jie LI
;
Tong RU
;
Ying YANG
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Amniotic Fluid; cytology; metabolism; Chromosome Aberrations; Chromosome Duplication; Chromosomes, Human, Pair 1; genetics; Chromosomes, Human, Pair 6; genetics; Female; Fetal Diseases; diagnosis; genetics; Humans; Karyotyping; Oligonucleotide Array Sequence Analysis; methods; Polymorphism, Single Nucleotide; Pregnancy; Prenatal Diagnosis; methods; Reproducibility of Results; Sensitivity and Specificity; Uniparental Disomy
- From: Chinese Journal of Medical Genetics 2015;32(6):819-822
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the genetic cause for a fetus with structural anomaly, and to correlate the phenotype with the genotype.
METHODSAmniotic fluid was obtained following the revelation of structural anomaly by ultrasonography. Cell culture and direct DNA extraction were performed in parallel. G-banded karyotyping analysis and chromosome microarray analysis (CMA) were subsequently carried out.
RESULTSG-banded karyotyping has suggested the fetus to be a normal male. However, CMA analysis has revealed the presence of a mosaic 3.24 Mb duplication of 1p36.33p36.32 (24%) and uniparental disomy (UPD) of chromosome 6. The genetic diagnosis for the fetus was therefore 46,XY, arr 1p36.33 p36.32(849,466-4,090,472)×2-3, (6)×2 hmz. The anomaly can probably explain the ultrasound findings in the fetus.
CONCLUSIONCompared with conventional cytogenetic methods, CMA has greater resolution and throughput, and can serve as a more efficient platform for the detection of chromosomal microdeletion, microduplication, loss of heterozygosity and UPD.
