Prenatal diagnosis of two fetuses with de novo small supernumerary markers by single nucleotide polymorphism array based comparative genomic hybridization.
- VernacularTitle:应用单核苷酸多态性-微阵列比较基因组杂交技术检测胎儿标记染色体
- Author:
Xiu-qing JI
1
;
Li LI
;
Ying LIN
;
Ding-yuan MA
;
An LIU
;
Jing-jing ZHANG
;
Jian CHENG
;
Jing ZHOU
;
Ping HU
;
Zheng-feng XU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Comparative Genomic Hybridization; methods; Female; Humans; Multiplex Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Pregnancy; Prenatal Diagnosis
- From: Chinese Journal of Medical Genetics 2012;29(5):510-514
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the origins of small de novo mosaic supernumerary marker chromosomes (mars) in two fetuses, and to assess the feasibility of single nucleotide polymorphism array-based comparative genomic hybridization (SNP-array CGH) for prenatal molecular cytogenetic diagnosis.
METHODSTwo fetuses with de novo were identified. SNP-array marker chromosomes was applied to define the location and range of marker chromosomes. The karyotype of fetus I was determined to be 47,XX,+ mar[23]/46,XX[16], and that of fetus II was 47,XX,+ mar. Multiplex ligation-dependent probe amplification (MLPA) was applied to verify the genomic imbalance found in fetus II. The karyotypes of parents were normal in both families.
RESULTSSNP-array CGH has indicated a 8.3 Mb duplication at 9p21.1-p21.3 in fetus I, and a 10.8 Mb duplication at 15q11.2-q13.3 in fetus II. MLPA has also confirmed a 15q terminal duplication in fetus II.
CONCLUSIONAbove cases have illustrated that SNP-array CGH is a rapid, powerful and sensitive technique which may be used for identify the origins of marker chromosomes in prenatal diagnosis.
