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Clinics and Practice
Volume 6
Issue 3
10.4081/cp.2016.852
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Clinics and Practice is published by MDPI from Volume 11 Issue 1 (2021). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Case Report

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

by
Akiko Takashima
*,
Naoki Takeshita
and
Toshihiko Kinoshita
Department of Obstetrics and Gynecology, Toho University Medical Center Sakura Hospital, 564-1 Shinoshizu, Sakura, Chiba 285-0841, Japan
*
Author to whom correspondence should be addressed.
Clin. Pract. 2016, 6(3), 852; https://doi.org/10.4081/cp.2016.852
Submission received: 12 April 2016 / Revised: 12 April 2016 / Accepted: 13 June 2016 / Published: 8 August 2016

Abstract

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.
Keywords: amniocentesis; chromosomal microarray analysis; microduplication amniocentesis; chromosomal microarray analysis; microduplication

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MDPI and ACS Style

Takashima, A.; Takeshita, N.; Kinoshita, T. Genetic Counseling for a Prenatal Diagnosis of Structural Chromosomal Abnormality with High-Resolution Analysis Using a Single Nucleotide Polymorphism Microarray. Clin. Pract. 2016, 6, 852. https://doi.org/10.4081/cp.2016.852

AMA Style

Takashima A, Takeshita N, Kinoshita T. Genetic Counseling for a Prenatal Diagnosis of Structural Chromosomal Abnormality with High-Resolution Analysis Using a Single Nucleotide Polymorphism Microarray. Clinics and Practice. 2016; 6(3):852. https://doi.org/10.4081/cp.2016.852

Chicago/Turabian Style

Takashima, Akiko, Naoki Takeshita, and Toshihiko Kinoshita. 2016. "Genetic Counseling for a Prenatal Diagnosis of Structural Chromosomal Abnormality with High-Resolution Analysis Using a Single Nucleotide Polymorphism Microarray" Clinics and Practice 6, no. 3: 852. https://doi.org/10.4081/cp.2016.852

APA Style

Takashima, A., Takeshita, N., & Kinoshita, T. (2016). Genetic Counseling for a Prenatal Diagnosis of Structural Chromosomal Abnormality with High-Resolution Analysis Using a Single Nucleotide Polymorphism Microarray. Clinics and Practice, 6(3), 852. https://doi.org/10.4081/cp.2016.852

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