• Jinping Zhu and Juan Hu.
• Genetic Medical Center, Women and Children's Hospital of Linyi City, Liyin, China.
• Medicine (Baltimore). 2024 Jun 7; 103 (23): e38461e38461.

RationaleWith advances in prenatal diagnostic techniques, chromosomal microdeletions and microduplications have become the focus of prenatal diagnosis. 7q partial monosomy or trisomy due to a deletion or duplication of the 7q end is relatively rare and usually originates from parents carrying a balanced translocation.Patient ConcernsNoninvasive prenatal screening (NIPT) showed a fetus with partial deletion and duplication of chromosome 7q. It was not possible to determine whether the fetus was normal.DiagnosesConventional chromosome G-banding and chromosome microarray analysis (CMA) were performed on fetal amniotic fluid samples and parental peripheral blood samples.InterventionsThe pregnant women were given detailed genetic counseling by clinicians.OutcomesThe fetal karyotype was 46, XY on conventional G-banding analysis. The CMA test results showed a deletion of approximately 7.8 Mb in the 7q36.1q36.3 region and a duplication of 6.6Mb in the 7q35q36.1 region. The parents' karyotype analysis and CMA results were normal, indicating a new mutation.LessonsCMA molecular diagnostic analysis can effectively detect chromosomal microdeletions or microduplications, clarify the relationship between fetal genotype and clinical phenotype, and provide a reference for prenatal diagnosis of chromosomal microdeletion-duplication syndrome.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

18 keywords...

hide…