Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome

<div>Fluorescence in-situ hybridization (FISH) analysis of cultured amniocytes. FISH showed two 1p31.3 region specific signals (blue) and one 1p36.33 region specific signal (green), indicating 1p36 deletion. The arrow indicates 1p36.33 region specific signal. The arrowhead indicates 1p31.3 region specific signal.</div>

Case Reports in Obstetrics and Gynecology

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Figure 3: Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome 