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 D 1 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.