A patient with Angelman syndrome and a 46,XY/47,XY,+inv dup(15)(pter-->q11: q11-->pter) karyotype and a patient with Prader-Willi syndrome and a 46,XY/47,XY,+inv dup(15)(pter-->q12: q12-->pter) karyotype were investigated with molecular markers along chromosome 15. Paternal uniparental isodisomy was found for all informative markers in the first case which indicates that this, rather than the p...

Secondary osteosarcoma from fibrous dysplasia (FD) is very rare. The etiology of FD is linked to activating missense mutations of the guanine nucleotide-binding protein α-subunit (GNAS) gene, which encodes the stimulatory α subunit of the G protein (Gsα) and is located at chromosome 20q13. These mutations are central to the pathogenesis of FD; however, it is not known whether Gsα mutations are ...

The standard model contribution to ǫ/ǫ of the magneticand electric-dipole penguin operators Q11 = gs 16π ms s̄ σμνt G a (1− γ5) d and Q12 = eQd 16π ms s̄ σμνF μν(1− γ5) d is discussed. While the electromagnetic penguin Q12 seems to have a vanishingly small matrix element, we find that the gluonic dipole operator Q11 may give a contribution to ǫ/ǫ comparable to that of other operators so far consi...

The TCL1 oncogene on human chromosome 14q32.1 is involved in chromosome translocations [t(14;14)(q11;q32.1) and t(7;14)(q35;q32.1)] and inversions [inv14(q11;q32.1)] with TCR alpha/beta loci in T-cell leukemias, such as T-prolymphocytic (T-PLL). It is also involved in T-acute and -chronic leukemias arising in cases of ataxia-telangiectasia (AT), an immunodeficiency syndrome. Similar chromosomal...

Rearrangement of chromosomal bands 1q21-23 is one of the most frequent chromosomal aberrations observed in hematological malignancy. The genes affected by these rearrangements remain poorly characterized. Typically, 1q21-23 rearrangements arise during tumor evolution and accompany disease-specific chromosomal rearrangements such as t(14;18) (BCL2) and t(8;14) (MYC), where they are thus thought ...

The t(11;22) (q23;q11) translocation is the most frequently identified familial reciprocal translocation in humans. In translocation carriers, 3:1 meiotic segregation with tertiary trisomy can occur resulting in abnormal progeny with the der(22) as the supernumary chromosome. Affected children have a distinct phenotype with multiple anomalies and severe mental retardation. We have identified a ...

The ETV6 gene (first identified as TEL) is a frequent target of chromosomal translocations in both myeloid and lymphoid leukemias. At present, more than 40 distinct translocations have been cytogenetically described, of which 13 have now also been characterized at the molecular level. These studies revealed the generation of in-frame fusion genes between different domains of ETV6 and partner ge...

Chronic myeloid leukemia (CML) is caused by the reciprocal translocation t(9;22)(q34;q11), resulting in BCR-ABL1 fusion gene. tyrosine kinase inhibitors (TKIs) improve overall survival patients with chronic phase CML (CML-CP). Approximately half of who achieve a durable deep molecular response can sustained treatment-free remission (TFR) after TKI discontinuation; thus TFR now therapeutic goal ...