Comprehensive Cytogenetic Analysis Reveals Mosaicism in Newborn with Negative Prenatal Down Syndrome Screening: A Case Report

Irina Puppo; Alla Vardanyan; Gohar Shahsuvaryan; Susanna Petrosyan; Narek Pepanyan; Inessa Nazaryan

doi:10.12659/AJCR.948522

27 August 2025 : Case report Armenia

Comprehensive Cytogenetic Analysis Reveals Mosaicism in Newborn with Negative Prenatal Down Syndrome Screening: A Case Report

Challenging differential diagnosis

Irina Puppo

^{ABCDEF 1*}, Alla Vardanyan^{BCDE 1}, Gohar Shahsuvaryan

^{DEF 1}, Susanna Petrosyan^{EF 1}, Narek Pepanyan^{EF 1}, Inessa Nazaryan^{EFG 1}

DOI: 10.12659/AJCR.948522

Am J Case Rep 2025; 26:e948522

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Figure 1 Proband metaphase and karyotype on PHA-stimulated lymphocyte. Metaphase (A) and karyogram (B) with 47 chromosomes and trisomy 21 (GTG-banding).

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Comprehensive Cytogenetic Analysis Reveals Mosaicism in Newborn with Negative Prenatal Down Syndrome Screening: A Case Report

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