Abstract:
Monosomy 7 is an indicator of malignant transformation in patients with different subtypes of severe congenital neutropenias (SCNs). We present the case of a 5-year-old male diagnosed with SCN. Standard karyotype and fluorescent in situ hybridization (FISH) analyses for centromere of chromosome 7 (chromosome enumeration probe 7 [CEP7]) in bone marrow samples showed disomy for chromosome 7 and a single copy of CEP7. In all cells examined, karyotype analysis of peripheral PHA-stimulated blood samples revealed disomy for chromosome 7. Our results address the issue of centromeric heteromorphism in cytogenetic analysis. Herein, we report a case where FISH using CEP7 in the bone marrow sample showed the presence of only one signal suggesting monosomy seven due to an acquired heteromorphism, whereas extensive conventional karyotyping showed disomy of chromosome 7. © 2019, © 2019 Taylor & Francis Group, LLC.
