A Fetus with Maternal Uniparental Disomy on Chromosome 20: Case Report with Genetic Analysis and Prenatal Diagnosis.
Clin Lab
; 70(1)2024 Jan 01.
Article
em En
| MEDLINE
| ID: mdl-38213211
ABSTRACT
BACKGROUND:
A fetus with increased copy number of chromosome 20 was identified by NIPT. Here we utilize several genetic tests and analyses to illuminate the etiology of such aneuploidy.METHODS:
Amniotic fluid cells were extracted from pregnant woman and sent for karyotype and chromosomal microarray analysis (CMA). Trio pedigree analysis was conducted with Chromosome Analysis Suite and uniparental disomy (UPD)-tool software.RESULTS:
CMA identified consistent results, which were 2 regions of homozygosity arr[GRCh37]20p12.2q11.1 (11265096_26266313)hmz and arr[GRCh37]20q11.21q13.2(29510306_54430467)hmz. The trio pedigree analysis discovered that the fetal chromosome 20 was the entire maternal UPD mosaic with isodisomy and heterodisomy.CONCLUSIONS:
When a large segment of chromosome is homozygous, appropriate genetic tests are required to find the potential mechanisms for UPD formation.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 20
/
Dissomia Uniparental
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article