Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13.
Publication
, Journal Article
Weigel, BJ; Pierpont, ME; Young, TL; Mutchler, SB; Neglia, JP
Published in: Am J Med Genet
May 26, 1998
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 --> q22). This child and a similar previously reported girl with retinoblastoma and Hirschsprung disease may represent a previously unrecognized contiguous gene syndrome.
Duke Scholars
Published In
Am J Med Genet
DOI
ISSN
0148-7299
Publication Date
May 26, 1998
Volume
77
Issue
4
Start / End Page
285 / 288
Location
United States
Related Subject Headings
- Retinoblastoma
- Male
- Infant, Newborn
- Humans
- Hirschsprung Disease
- Chromosomes, Human, Pair 13
- Chromosome Deletion
- 3202 Clinical sciences
- 3105 Genetics
- 1103 Clinical Sciences
Citation
APA
Chicago
ICMJE
MLA
NLM
Weigel, B. J., Pierpont, M. E., Young, T. L., Mutchler, S. B., & Neglia, J. P. (1998). Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13. Am J Med Genet, 77(4), 285–288. https://doi.org/10.1002/(sici)1096-8628(19980526)77:4<285::aid-ajmg7>3.0.co;2-m
Weigel, B. J., M. E. Pierpont, T. L. Young, S. B. Mutchler, and J. P. Neglia. “Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13.” Am J Med Genet 77, no. 4 (May 26, 1998): 285–88. https://doi.org/10.1002/(sici)1096-8628(19980526)77:4<285::aid-ajmg7>3.0.co;2-m.
Weigel BJ, Pierpont ME, Young TL, Mutchler SB, Neglia JP. Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13. Am J Med Genet. 1998 May 26;77(4):285–8.
Weigel, B. J., et al. “Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13.” Am J Med Genet, vol. 77, no. 4, May 1998, pp. 285–88. Pubmed, doi:10.1002/(sici)1096-8628(19980526)77:4<285::aid-ajmg7>3.0.co;2-m.
Weigel BJ, Pierpont ME, Young TL, Mutchler SB, Neglia JP. Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13. Am J Med Genet. 1998 May 26;77(4):285–288.
Published In
Am J Med Genet
DOI
ISSN
0148-7299
Publication Date
May 26, 1998
Volume
77
Issue
4
Start / End Page
285 / 288
Location
United States
Related Subject Headings
- Retinoblastoma
- Male
- Infant, Newborn
- Humans
- Hirschsprung Disease
- Chromosomes, Human, Pair 13
- Chromosome Deletion
- 3202 Clinical sciences
- 3105 Genetics
- 1103 Clinical Sciences