Comprehensive Cytogenetic Analysis Reveals Mosaicism in Newborn with Negative Prenatal Down Syndrome Screening: A Case Report.
Puppo I; Vardanyan A; Shahsuvaryan G; Petrosyan S; Pepanyan N; Nazaryan I · 2025 · The American journal of case reports
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Abstract (excerpt)
BACKGROUND Down syndrome, or trisomy 21, is one of the most common chromosomal disorders associated with intellectual disability. Prenatal screening is a proactive approach to identify fetuses with common chromosomal abnormalities.…
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Metadata source: Europe PMC · DOI 10.12659/ajcr.948522