scholarly journals Added value of chromosomal microarray analysis over conventional karyotyping in stillbirth work‐up: systematic review and meta‐analysis

2019 ◽  
Vol 53 (5) ◽  
pp. 590-597 ◽  
Author(s):  
R. J. Martinez‐Portilla ◽  
M. Pauta ◽  
A. Hawkins‐Villarreal ◽  
M. Rial‐Crestelo ◽  
F. Paz y Miño ◽  
...  
Keyword(s):  
Systematic Review ◽  
Microarray Analysis ◽  
Meta Analysis ◽  
Added Value ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Work Up

Added Value of Chromosomal Microarray Analysis Over Conventional Karyotyping in Stillbirth Work-up

2019 ◽  
Vol 74 (10) ◽  
pp. 580-582
Author(s):  
R. J. Martinez-Portilla ◽  
M. Pauta ◽  
A. Hawkins-Villarreal ◽  
M. Rial-Crestelo ◽  
F. Paz Y Miño ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Added Value ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Work Up

scholarly journals Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report

Open Medicine ◽  
2020 ◽  
Vol 15 (1) ◽  
pp. 1123-1127
Author(s):  
Shuang Chen ◽  
Yang Yu ◽  
Han Zhang ◽  
Leilei Li ◽  
Yuting Jiang ◽  
...  
Keyword(s):  
Case Report ◽  
Microarray Analysis ◽  
Prenatal Testing ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosome 5 ◽  
Left Lateral Ventricle ◽  
Pulsed Doppler Ultrasound

AbstractChromosomal microdeletions and microduplications likely represent the main genetic etiologies for children with developmental delay or intellectual disability. Through prenatal chromosomal microarray analysis, some microdeletions or microduplications can be detected before birth to avoid unnecessary abortions or birth defects. Although some microdeletions or microduplications of chromosome 5 have been reported, numerous microduplications remain undescribed. We describe herein a case of a 30-year-old woman carrying a fetus with a chromosome 5q21.1–q21.3 microduplication. Because noninvasive prenatal testing indicated a fetal chromosome 5 abnormality, the patient underwent amniocentesis at 22 weeks 4 days of gestation. Karyotyping and chromosomal microarray analysis were performed on amniotic fluid cells. Fetal behavioral and structural abnormalities were assessed by color and pulsed Doppler ultrasound. Clinical characteristics of the newborn were assessed during the follow-up. The left lateral ventricle appeared widened on ultrasound, but the infant appeared normal at birth. The 5q21.1–q21.3 microduplication in the fetus was inherited from his mother. There are seven genes in this duplication region, but their main functions are unclear. According to this case report, microduplication in this region could represent a benign mutation. Clinicians should pay attention to the breakpoints and the genes involved when counseling patients with microdeletions and microduplications.

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