An interstitial deletion of chromosome 13 with breakpoints at 13q22 and 13q32 is presented. The clinical findings associated with this deletion are discussed in relation to the correlations of specific chromosomal bands with constellations of congenital defects as described by Niebuhr and Ottosen (1
Molecular Definition of Interstitial Deletions of Chromosome 13 in Leukemic Cells
β Scribed by Christine M. Morris; Jill M. Cochrane; Suzanne M. Benjes; Peter E. Crossen; Peter H. Fitzgerald
- Publisher
- John Wiley and Sons
- Year
- 1991
- Tongue
- English
- Weight
- 823 KB
- Volume
- 3
- Category
- Article
- ISSN
- 1045-2257
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β¦ Synopsis
Three patients with leukemia and one with a myeloproliferative disorder carried an interstitial deletion of chromosome 13, del( I3)(q 12q 14). in leukemic cells. Proximal and distal breakpoints of the deleted segment were characterized by using DNA restriction fragment length polymorphisms of chromosome I3 supplemented by quantitative densitometry of hybridization signals to determine the copy number of individual loci. Both proximal and distal breakpoints varied between patients, and it is unlikely that a significant hybrid gene was formed by rejoining at the breakpoint junctions. The retinoblastoma gene was encompassed by the deleted segment in all four patients.
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Retinoblastoma is a rare pediatric malignancy (1/20,000) while Hirschsprung disease is a relatively common pediatric disorder (1/ 5,000). We describe a boy with bilateral retinoblastoma, Hirschsprung disease, multiple minor anomalies, and an interstitial deletion 13q (q13 β q22). This child and a si
Application of a method for the fine structure analysis of unbalanced chromosomal rearrangements using quantitative Southern blot analysis has established that an individual of normal intelligence and largely normal appearance has a significant interstitial deletion of chromosome 21. Using high reso