Evidence for a genetic factor related to leukemogenesis and congenital anomalies: Chromosomal aberrations in pedigree of an infant with partial D trisomy and leukemia

Chromosomal studies of relatives of an infant with myeloblastic leukemia and clinical and cytogenetic findings consistent with partial D1 trisomy showed excessive breakage, chromatid exchange and endoreduplication, and fragment formation in 3 generations of the pedigree, which suggests a genetic factor acting in the manner of a “breakage gene” and constituting a possible link between leukemogenesis, congenital anomalies, and chromosomal aberrations.