A Rare t(1;11)(q42;q23) Rearrangement with Trisomy 8 and Trisomy 21 in a Pediatric Acute Myeloid Leukemia Patient with Aberrant CD7 Expression and Jacob Syndrome: Diagnostic Value of Conventional Cytogenetics and Fluorescence in Situ Hybridization in a Rapidly Fatal Case.

abnormality, t(2;7)(p13.1;p21.3), in a Philadelphia-positive chronic myeloid leukemia

Pediatric T-cell lymphoblastic lymphoma with t(9;17)(q34;q23)-associated N-terminally truncated NOTCH1 activation: a case report.

T-cell lymphoblastic lymphoma (T-LBL) is an aggressive malignancy that comprises 20% of pediatric non-Hodgkin lymphoma cases. Most T-LBLs harbor NOTCH1 point mutations or small indels, which are generally associated with favorable outcomes. In contrast, the clinical impact of structural rearrangements involving NOTCH1...

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat

Findings further support the role of haploinsufficient genes within the distal 1q43q44 region, particularly AKT3, HNRNPU, and ZBTB18, to the core neurodevelopmental phenotype and highlight the value of high‐resolution genomic analysis for patient characterization.

A New Complex Variant 4-Point Break Three-Way Translocation Involving Chromosomes 8, 15 and 17 in a Patient with Acute Promyelocytic Leukemia: A Case Report and Literature Review

The genetic hallmark of Acute promyelocytic leukemia (APL) is the balanced reciprocal translocation t(15;17)(q24;q21), resulting in the PML::RARα fusion gene. Although the majority of APL patients carry the typical t(15;17), variant translocations involving three or more chromosomes have also been described. We report...

B-Cell Acute Lymphoblastic Leukemia Associated with Isolated and Recurrent Central Nervous System Relapse with a Novel t(6;19)(q21;p13) Translocation: A Case Report

B-cell acute lymphoblastic leukaemia (B-ALL) is a haematological malignancy characterised by the clonal proliferation of B-lymphoid precursors. Cytogenetic and molecular alterations are central to B-ALL classification and diagnosis according to the 2024 World Health Organization (WHO) guidelines. Although recurrent abn...

Molecular Cytogenetic Analysis of Recombinant Chromosome 8 in a Child with Developmental Delay and Dysmorphic Features: A Case Report from India and Literature Review

Recombinant chromosome 8, rec(8) is associated with a syndrome, often reported in individuals of Hispanic ancestry, characterized by moderate-to-severe intellectual disability, craniofacial dysmorphism, and congenital heart or urogenital anomalies. It typically results from a parental pericentric inversion on chromos...