The EVll DNA-binding protein gene on chromosome 3q26 has been reported to be activated in some leukemia cells with alterations in 3q26. We present an acute myelogenous leukemia (AML) patient with a rare chromosomal translocation, t(3;13)(q26.2;q13-14). By reverse transcription-polymerase chain react
Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3)
โ Scribed by Robert S. Sparkes; Maryellen C. Sparkes; Robert E. Kalina; Roberta A. Pagon; Darrell J. Salk; Christine M. Disteche
- Publisher
- Springer
- Year
- 1984
- Tongue
- English
- Weight
- 229 KB
- Volume
- 68
- Category
- Article
- ISSN
- 0340-6717
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โฆ Synopsis
A chromosome 13 deletion in a patient with sporadic retinoblastoma appears to have separated the loci for retinoblastoma and esterase D. This study indicates that: (1) the retinoblastoma locus is distinct from the esterase D locus; and (2) the linear order of these genes is centromere-esterase D-retinoblastoma.
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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 โ q22). This child and a si
We report a 40-year-old patient with familial retinoblastoma also affecting his elder son, who developed multiple fibromas on the periungual or subungual areas of all the fingers. Molecular analysis disclosed a loss of heterozygosity for the RB1 gene in the larger tumour, with disappearance of the n