Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia
- Indiana Univ., Indianapolis, IN (United States); and others
We describe a patient with an asymmetrical double ring 21 in mosaic form, 45,XX, -21/46,XX, -21, +r(21) (q22.11{yields}p11.2::q11.1{yields}q22.3), who has limited manifestations of Down`s syndrome and who developed acute myelofibrosis and megakaryocytic leukemia (AMKL), M7, a hematologic disorder particularly common in Down`s syndrome patients. In situ hybridization studies (gene dosage and DNA polymorphism analysis) show that the ring chromosome carries a duplicated region which extends from D21S258 on the centromeric side and includes marker D21S1245 on the telomeric side, but does not include the region from PFKL and ITGB2 through the telomere. FISH studies indicate two sizes of ring 21 in the patient. The origin of the supernumerary chromosome 21 in the proband was paternal; furthermore, the r(21) was probably formed post-zygotically. Included in the duplicated segment are the candidate genes for leukemia AML-1, ETS2 and ERG. If disomic homozygosity is important in the development of AMKL in the proband, the gene responsible maps either between the centromere and D21S11 or between D21S1239 and D21S1245.
- OSTI ID:
- 133552
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0280
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
Similar Records
No significant effect of monosomy for distal 21q22. 3 on the Down syndrom phenotype in mirror' duplications of chromosome 21
Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization