Publications by authors named "Emilie Alazard"
Article Synopsis
- Gonadal mosaicism can occur in various dominant or X-linked conditions and should be considered in cases of new genetic variations, as they may indicate underlying genetic issues in parents.
- Recent findings suggest that low-level somatic mosaicism is sometimes mistaken for parental germline mosaicism, complicating genetic assessments.
- This report presents a unique case of parental somatic and gonadal mosaicism in the SATB2 gene, illustrating the importance of thorough genetic testing to accurately determine recurrence risks for future pregnancies.
Discrimination between lymphoid blast crisis of chronic myeloid leukemia (CML) and de novo BCR-ABL1 positive acute lymphoblastic leukemia (ALL) represents a diagnostic challenge because this distinction has a major incidence on the management of patients. Here, we report an uncommon pediatric case of ALL with cryptic ins(22;9)(q11;q34q34) and p190-type BCR-ABL1 transcript. We performed interphase fluorescence in situ hybridization (FISH) for BCR-ABL1 rearrangement on blood neutrophils, which was positive consistent with the diagnosis of lymphoid blast crisis of CML.
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