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

被引：0
|
作者：
Takashima, Akiko [1 ]
Takeshita, Naoki [1 ]
Kinoshita, Toshihiko [1 ]
机构：
[1] Toho Univ, Med Ctr, Sakura Hosp, Dept Obstet & Gynecol,Sakura Ku, 564-1 Shinoshizu, Chiba 2850841, Japan
来源：
CLINICS AND PRACTICE | 2016年 / 6卷 / 03期
关键词：
Amniocentesis; chromosomal microarray analysis; microduplication;
D O I：
10.4081/cp.2016.852
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：55 / 56
页数：2
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