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A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus

โœ Scribed by Armand Bottani; Yagang Xie; Frank Binkert; Albert Schinzel

Publisher
Springer
Year
1991
Tongue
English
Weight
570 KB
Volume
87
Category
Article
ISSN
0340-6717

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โœฆ Synopsis

A mentally retarded boy with discrete physical findings, Hirschsprung disease (HD) and a microdeletion of 13q,del(13)(q32.3q33.2) is described. Band 13q33.1 was consistently missing in all cells. There have been, to date, 4 published cases of deletions involving the long arm of chromosome 13 associated with HD: the interstitial deletion reported here is much smaller than, and it partially overlaps with, the previously reported deletions; it could be helpful for mapping one of the genes involved in this disease.

๐Ÿ“œ SIMILAR VOLUMES

Retinoblastoma and Hirschsprung disease
Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13
โœ Weigel, Brenda J.; Pierpont, Mary Ella M.; Young, Terri L.; Mutchler, Scott B.; ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 23 KB ๐Ÿ‘ 3 views

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