27 August 2025
: Case report 
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
Figure 2 Results of fluorescence in situ hybridization (FISH) analysis. Upper row: FISH on unstimulated lymphocyte nuclei. Bottom row: FISH on oral mucosa cells. FISH with probes for chromosome 13 (LSI 13q14, Spectrum Green) and for chromosome 21 (LSI 21q22.13-q22.2, Spectrum Orange) from Aneuvysion Multicolour DNA Probe Kit (Vysis, Abbott Molecular, USA), showing interphase nuclei with trisomy 21 (A, C) and disomy 21 (B, D).