Chromosome microarray analysis of four fetuses with abnormal karyotypes.
- VernacularTitle:用染色体微阵列芯片检测四例羊水染色体异常的胎儿
- Author:
Ruifang ZHU
1
,
2
;
Xiangyu ZHU
;
Ying YANG
;
Xing WU
;
Ying ZHANG
;
Yiyan SHI
;
Linlin HE
;
Jie LI
Author Information
- Publication Type:Journal Article
- MeSH: Abnormal Karyotype; Adult; Chromosome Banding; Female; Humans; Karyotyping; Microarray Analysis; methods; Pregnancy; Prenatal Diagnosis
- From: Chinese Journal of Medical Genetics 2017;34(6):812-815
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo carry out chromosomal microarray analysis (CMA) on four fetuses with abnormal karyotypes.
METHODSAmniotic fluid samples were obtained and subjected to routine G-banded karyotyping analysis. CMA was applied for cultured amniocytes to determine alterations of gene dosage and chromosomal breakpoints.
RESULTSAbnormal karyotypes were found in the parents of 3 fetuses. Parental karyotypes of the remaining fetus were normal. Imbalance chromosome rearrangements were revealed by CMA in all 4 cases.
CONCLUSIONCMA is an effective tool for the evaluation of clinical significance and delineation of the breakpoints involved in complex chromosomal rearrangements.
