Document Detail

Juvenile polyposis of infancy associated with paracentric inversion and deletion of chromosome 10 in a Hispanic patient: a case report.
MedLine Citation:
PMID:  20334546     Owner:  NLM     Status:  In-Data-Review    
Abstract Juvenile polyposis of infancy is a rare genetic disorder, involving multiple hamartomatous polyps of the gastrointestinal tract, which usually has a very aggressive clinical course and is often fatal. It is characterized by early onset (during the 1st months of life) and by diffuse juvenile polyposis with anemia, recurrent gastrointestinal bleeding, diarrhea, rectal prolapse, intussusception, protein-losing enteropathy, starvation, and malnutrition. There is a hypothesis that mutation of the tumor-suppressor genes BMPR1A and PTEN, located on the long arm of chromosome 10, is associated with the development of this disease. Medical treatment for this disorder is challenging and should be conservative whenever possible. We present the case of a 3-year-old girl with juvenile polyposis of infancy who eventually died from mesenteric artery thrombosis during surgical colectomy. Karyotype of the patient showed a paracentric inversion in 10q and a deletion in 10p. We will briefly comment on some genetic considerations of this disease.
Roberto Vargas-González; Luis de la Torre-Mondragón; Juan Manuel Aparicio-Rodríguez; Froylan Paniagua-Morgan; Gerardo López-Hernández; Miguel Angel Garrido-Hernández; Sandra Nuñez-Barrera
Related Documents :
9712536 - A new case of ambras syndrome associated with a paracentric inversion (8) (q12; q22)
18622266 - Chromosome 17: association of a large inversion polymorphism with corticosteroid respon...
17462616 - Mutual interference between serum thyroglobulin and antithyroglobulin antibody in an au...
2096356 - Familial pericentric inversion of chromosome 11 in a child with sporadic unilateral ret...
3463206 - A practical metaphase marker of the inactive x chromosome.
2307056 - Flow cytometric quantification of human chromosome specific repetitive dna sequences by...
Publication Detail:
Type:  Journal Article     Date:  2010-03-24
Journal Detail:
Title:  Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society     Volume:  13     ISSN:  1093-5266     ISO Abbreviation:  Pediatr. Dev. Pathol.     Publication Date:    2010 Nov-Dec
Date Detail:
Created Date:  2011-02-24     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9809673     Medline TA:  Pediatr Dev Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  486-91     Citation Subset:  IM    
1 Pathology Department, "Hospital Puebla" Privada de las Ramblas No 4, Desarrollo territorial Atlixcayotl, CP 72197 Puebla Pue., México.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Emergency planning and preparedness for the deliberate release of toxic industrial chemicals.
Next Document:  Blood Temperature Profiles of Diving Elephant Seals.