Characterization and molecular analysis of nondisjunction in 18 cases of trisomy 21 and leukemia

✍ Scribed by Briana J. Lorber; Sallie B. Freeman; Terry Hassold; Abdel H. Ragab; Roger A. Vega; Annette E. Cockwell; Patricia A. Jacobs; Martin Radford; John Doyle; Ian D. Dubé; Alvin Zipursky

• Book ID: 102844554
• Publisher: John Wiley and Sons
• Year: 1992
• Tongue: English
• Weight: 559 KB
• Volume: 4
• Category: Article
• ISSN: 1045-2257
• DOI: 10.1002/gcc.2870040306

✦ Synopsis

W e recently began a cytogenetic and molecular study of nondisjunction in leukemic Down syndrome individuals to determine whether the mechanism by which the extra chromosome 21 originates predisposes the individual to leukemia. In the present report, we summarize our observations on I8 patients with trisomy 2 I and acute or transient leukemia, including I I patients with acute lymphocytic leukemia, three with acute myeloid leukemia, one with B-cell lymphoma, one with acute megakaryoblastic leukemia, and two with transient leukemia. Results of D N A marker studies of the parental origin of the extra chromosome 2 I indicated that I6 of the I8 cases (89%) were maternally derived, a percentage similar to that seen among nonleukemic Down syndrome patients. W e noted that most leukemic Down syndrome patients had one locus or more in which parental heterozygosity was maintained in the trisomic individual, indicating a meiotic rather than a mitotic origin for the trisomy. Genes