Incidence and Significance of a Deletion of Chromosome Band 13q14 in Patients with Retinoblastoma and in Their Families
โ Scribed by Liberfarb, Ruth M.; Bustos, Tania; Miller, Wayne A.; Sang, Delia
- Book ID
- 122186433
- Publisher
- Elsevier Science
- Year
- 1984
- Tongue
- English
- Weight
- 592 KB
- Volume
- 91
- Category
- Article
- ISSN
- 0161-6420
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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 on a 10-year-old boy with a normal karyotype and a chromosome 13q14 deletion of the retinoblastoma gene (RB1) by fluorescence in situ hybridization (FISH). He showed subtle signs of overgrowth, including macrocephaly, hepatomegaly, and inguinal hernia. The boy also had cryptorchism and mil
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-ret