Genetic Counseling for a Prenatal Diagnosis of Structural Chromosomal Abnormality with High-Resolution Analysis Using a Single Nucleotide Polymorphism Microarray | Zendy

Akiko Takashima | Zendy; Naoki Takeshita | Zendy; Toshihiko Kinoshita | Zendy

Open Access

Genetic Counseling for a Prenatal Diagnosis of Structural Chromosomal Abnormality with High-Resolution Analysis Using a Single Nucleotide Polymorphism Microarray

Author(s) -

Akiko Takashima,

Naoki Takeshita,

Toshihiko Kinoshita

Publication year - 2016

Publication title -

clinics and practice

Language(s) - English

Resource type - Journals

ISSN - 2039-7283

DOI - 10.4081/cp.2016.852

Subject(s) - amniocentesis , prenatal diagnosis , genetic counseling , karyotype , chromosomal translocation , genetics , medicine , microarray , chromosomal abnormality , abnormality , microarray analysis techniques , fetus , bioinformatics , chromosome , biology , pregnancy , gene , gene expression , psychiatry

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

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research