ArticleThe Journal of international medical research2022
Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2.
Article in The Journal of international medical research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- Participant perceptions of the impact of the ModPad program on molecular diagnostic capacity building and public health practices.Frontiers in public health · 2026Article
- Prenatal phenotypes and pregnancy outcomes of fetuses with 16p11.2 microdeletion/microduplication.BMC pregnancy and childbirth · 2024Article
- Article
- Advanced maternal age: copy number variations and pregnancy outcomes.Frontiers in genetics · 2023Article
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Authors and funding
4 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Copy number variations (CNVs) in chromosome 16p11.2 (deletions and duplications) are not rare. 16p11.2 microdeletion is among the most commonly known genetic etiologies of autism spectrum disorder, overweightness, and related neurodevelopmental disorders. Here, we report the prenatal diagnosis and genetic counseling of a maternally inherited 16p11.2 microdeletion. In this family, the mother and fetus both have a normal phenotype and the same microdeletion. Following the use of molecular genetic techniques, including array-based methods, the number of reported cases has rapidly increased. The combination of prenatal ultrasound, karyotype analysis, chromosomal microarray analysis (CMA), and genetic counseling is helpful for the prenatal diagnosis of chromosomal microdeletions/microduplications.
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