scholarly journals Single‐nucleotide polymorphism‐based chromosomal microarray analysis provides clues and insights into disease mechanisms

2019 ◽  
Vol 54 (5) ◽  
pp. 655-660
Author(s):  
H. Daum ◽  
V. Meiner ◽  
N. Hacohen ◽  
N. Zvi ◽  
A. Eilat ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Microarray Analysis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Disease Mechanisms

scholarly journals Genetic counseling for a prenatal diagnosis of structural chromosomal abnormality with high-resolution analysis using a single nucleotide polymorphism microarray

2016 ◽  
Vol 6 (3) ◽  
Author(s):  
Akiko Takashima ◽  
Naoki Takeshita ◽  
Toshihiko Kinoshita
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Genetic Counseling ◽  
Chromosomal Abnormality ◽  
Chromosomal Rearrangements ◽  
Genetic Diagnosis ◽  
Chromosomal Microarray ◽  
Normal Male ◽  
Chromosomal Microarray Analysis ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

A 41-year old pregnant woman underwent amniocentesis to conduct a conventional karyotyping analysis; the analysis reported an abnormal karyotype: 46,XY,add(9)(p24). Chromosomal microarray analysis (CMA) is utilized in prenatal diagnoses. A single nucleotide polymorphism microarray revealed a male fetus with balanced chromosomal translocations on 9p and balanced chromosomal rearrangements, but another chromosomal abnormality was detected. The fetus had microduplication. The child was born as a phenotypically normal male. CMA is a simple and informative procedure for prenatal genetic diagnosis. CMA is the detection of chromosomal variants of unknown clinical significance; therefore, genetic counseling is important during prenatal genetic testing.

scholarly journals Single nucleotide polymorphism-based microarray analysis for the diagnosis of hydatidiform moles

2016 ◽  
Vol 14 (1) ◽  
pp. 137-144 ◽  
Author(s):  
YINGJUN XIE ◽  
XIAOJUAN PEI ◽  
YU DONG ◽  
HUIQUN WU ◽  
JIANZHU WU ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Microarray Analysis ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Hydatidiform Moles

scholarly journals Chromosomal Microarray Analysis of Fetuses with Nasal Bone Anomaly

2020 ◽  
Author(s):  
Xiaorui Xie ◽  
Xiaoqing Wu ◽  
Linjuan Su ◽  
Meiying Cai ◽  
Ying Li ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Prenatal Diagnosis ◽  
Chromosomal Abnormalities ◽  
Snp Array ◽  
Nasal Bone ◽  
Chromosomal Microarray Analysis ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Fetal Nasal Bone ◽  
Structural Abnormalities

Abstract Objective: To explore the significance and value of fetal nasal bone anomaly (absence or hypoplasia) as indications of prenatal diagnosis.Methods: A total of 102 fetuses diagnosed with nasal bone absence or hypoplasia by ultrasonography underwent chorionic, amniotic, or umbilical cord blood puncture. Single nucleotide polymorphism microarray (SNP-array) was used to analyze fetal chromosomes.Results: Of the 102 fetuses with nasal bone absence or hypoplasia, 25 (24.5%) had chromosomal abnormalities, including 15 cases of trisomy 21, one trisomy 18 case, and 9 cases of other copy number variations. Among the 52 cases with isolated nasal bone absence or hypoplasia, 7(13.5%) had chromosomal abnormalities. In 50 cases, abnormal nasal bone with additional soft markers or structural abnormalities was observed, while 18 cases (36.0%) had chromosomal abnormalities, which were significantly higher than that among the fetuses with isolated nasal bone abnormality.Conclusion: Fetal nasal bone absence or hypoplasia can be used as an indication for prenatal diagnosis. The detection rate of chromosomal abnormalities increases with additional soft markers or structural abnormalities. This study demonstrates that fetal nasal bone absence or hypoplasia is associated with micro-deletions or micro-duplications of chromosomes. Application of single nucleotide polymorphism microarray (SNP-array) technology can reduce the rate of missed prenatal diagnoses.

scholarly journals Single Nucleotide Polymorphism Microarray Analysis in Cortisol-Secreting Adrenocortical Adenomas Identifies New Candidate Genes and Pathways

Neoplasia ◽  
2012 ◽  
Vol 14 (3) ◽  
pp. 206-IN13 ◽  
Author(s):  
Cristina L. Ronchi ◽  
Ellen Leich ◽  
Silviu Sbiera ◽  
Dirk Weismann ◽  
Andreas Rosenwald ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Candidate Genes ◽  
Microarray Analysis ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Adrenocortical Adenomas
Sign in / Sign up

Export Citation Format

Share Document