Cytogenetic and molecular studies of down syndrome individual with leukemia

Journal Article · Sat Apr 01 04:00:00 EST 1995 · American Journal of Human Genetics

OSTI ID:70428

Shen, J J; Hassold, T J ^[1]; Williams, B J ^[2]; Zupursky, A; Doyle, J ^[3]; Sherman, S L ^[4]; Jacobs, P A ^[5]; Shugar, A L; Soukup, S W ^[6]

---

1. Case Western Reserve Univ. School of Medicine, Cleveland, OH (United States)
2. Univ. of Utah School of Medicine, Salt Lake City, UT (United States)
3. Univ. of Toronto (Canada)
4. Emory Univ. School of Medicine, Atlanta, GA (United States)
5. Salisbury District Hospital (United Kingdom)
6. Univ. of Cincinnati, OH (United States)

There is an increased risk of leukemia in Down syndrome (DS) patients, with estimates ranging from 14 to 30 times the incidence rate observed for chromosomally normal children. Furthermore, one type of leukemia, called {open_quotes}transient leukemia{close_quotes} (TL), occurs almost exclusively in DS infants. The basis of the association between DS and leukemia is unknown, but we and others have hypothesized that it may be influenced by the mechanism of origin of the extra chromosome. Therefore, we initiated a cytogenetic and molecular study of nondisjunction in leukemic DS individuals. To date, we have obtained blood and/or tissue samples from 55 individuals consisting of 17 cases with TL, 7 cases of acute nonlymphocytic leukemia subtype M7 (ANLL-M7, or acute megakaryoblastic leukemia, postulated to be related to TL), and 31 cases of other forms of leukemia. Analysis of these cases suggests differences between DS children with TL and those with other types of leukemia or DS individuals with no history of leukemia. Specifically, the TL and ANLL-M7 cases have a highly significant increase in the frequency of {open_quotes}atypical{close_quotes} constitutional karyotypes (i.e., mosaic trisomies, rings, and/or isochromosomes) and are almost always male. Additionally, genetic mapping studies suggest an increase in the frequency of disomic homozygosity, especially in proximal 21q, in DS individuals with TL and ANLL-M7. 19 refs., 3 figs., 4 tabs.

• OSTI ID: 70428
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 4 Vol. 56; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
CORRELATIONS
DOWNS SYNDROME
GENETIC MAPPING
HUMAN CHROMOSOME 21
KARYOTYPE
LEUKEMIA
MOSAICISM
NON-DISJUNCTION
PATIENTS
RING CHROMOSOMES