ArticleJournal of assisted reproduction and genetics2020
A high level of tetrasomy 9p mosaicism but no clinical manifestations other than moderate oligozoospermia with chromosomally balanced sperm: a case report.
Article in Journal of assisted reproduction and genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Prenatal diagnosis and follow-up of a child with mosaic tetrasomy 9p without obvious abnormal clinical manifestations.Molecular cytogenetics · 2026Article
- Array of Testing Characterizes Prenatal Diagnosis of Mosaic Tetrasomy 9p24q22.3 Associated With an Unusually Mild Phenotype and Favourable Outcome.Molecular genetics & genomic medicine · 2025Article
- Application of various genetic analysis techniques for detecting two rare cases of 9p duplication mosaicism during prenatal diagnosis.Molecular genetics & genomic medicine · 2023Article
- Prenatal Diagnosis of Chromosomal Mosaicism in Over 18,000 Pregnancies: A Five-Year Single-Tertiary-Center Retrospective Analysis.Frontiers in genetics · 2022Article
- Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing.Frontiers in genetics · 2022Article
- First Case Report of Maternal Mosaic Tetrasomy 9p Incidentally Detected on Non-Invasive Prenatal Testing.Genes · 2021Article
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6 authors.
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Abstract
Tetrasomy 9p (ORPHA: 3310) (i(9p)) is a rare chromosomal imbalance. It is characterized by the presence of a supernumerary chromosome incorporating two copies of the short arm of chromosome 9 and is usually present in a mosaic state postnatally. Depending on the level of mosaicism, the phenotype ranges from mild developmental delay to multiple congenital anomalies with severe intellectual disability. Here, we report on a patient diagnosed with i(9p) mosaicism after the recurrent failure of in vitro fertilization. Although the patient's clinical phenotype was normal, the level of mosaicism varied greatly from one tissue to another. A sperm analysis evidenced subnormal spermatogenesis with chromosomally balanced spermatozoa and no risk of transmission to the offspring. Although individuals with i(9p) and no clinical manifestations have rarely been described, the prenatal diagnosis of this abnormality in the absence of ultrasound findings raises a number of questions.
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