TEL (12p13)/AML1(21q22)-t(12;21)(p13;q22)

t(12;21)(p13;q22) is a chromosomal translocation that fuses ETV6 (TEL) on chromosome 12 with RUNX1 (AML1) on chromosome 21, creating an ETV6–RUNX1 fusion protein. It is classically seen in pediatric B‑cell precursor acute lymphoblastic leukemia and is rare in acute myeloid leukemia. The fusion disrupts normal blood‑cell development and can influence diagnosis, classification, and treatment decisions.

21q22 deletion syndrome is a rare chromosomal disorder caused by loss of genetic material on the long arm (q22) of chromosome 21. It leads to variable intellectual disability, developmental delay, distinct facial features, low muscle tone, growth delay and commonly congenital heart defects; seizures and other anomalies may occur. Severity depends on deletion size. Diagnosis uses genetic testing and management is supportive and multidisciplinary.

AML is confirmed by blood tests showing abnormal white cells and blasts, followed by a bone marrow aspirate/biopsy demonstrating ≥20% myeloblasts. Diagnosis is refined with flow cytometry (immunophenotyping), cytogenetic and molecular testing (karyotype, FISH, PCR) to identify chromosomal or molecular abnormalities. Additional tests (lumbar puncture, biochemical panels, infection screens) assess spread and guide prognosis and therapy planning.

T 21 refers to Trisomy 21, the chromosomal condition that causes Down syndrome. It results from an extra copy of chromosome 21 (full or mosaic), leading to developmental delay, characteristic facial features, low muscle tone and higher risk of congenital heart defects, hearing, vision and thyroid issues. Management emphasizes early intervention, therapies and regular medical follow‑up; outcomes improve with appropriate care.

Deletion syndromes (chromosomal or gene deletions) vary widely in seriousness. Outcomes depend on which genes are lost, deletion size, and affected organs. Consequences can range from mild learning or growth differences to major congenital anomalies, cardiac defects, developmental delays, and increased medical needs; some can be life-threatening. Early genetic diagnosis, multidisciplinary care, and targeted therapies often improve health and developmental outcomes.

21q22.13 deletion syndrome is a rare chromosomal disorder caused by loss of genetic material on chromosome 21 (region q22.13). It commonly leads to developmental delay, intellectual disability, low muscle tone, distinctive facial features, feeding problems, congenital heart defects and variable growth issues. Most cases arise de novo. Diagnosis uses chromosomal microarray or genetic testing; management is supportive and multidisciplinary.