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Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2006 Aug 15; Vol. 140 (16), pp. 1785-8. - Publication Year :
- 2006
-
Abstract
- We have diagnosed a boy with cystic fibrosis (CF) due to paternal UPD presenting with overweight and developmental delay, not typical features to CF patients. Two previously reported patients with paternal UPD(7) did not present overgrowth. The discrepancy between the phenotype of this boy and the other two patients raises the question of imprinted genes or homozygotization of a disease-causing gene in paternal UPD7.
Details
- Language :
- English
- ISSN :
- 1552-4825
- Volume :
- 140
- Issue :
- 16
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 16835920
- Full Text :
- https://doi.org/10.1002/ajmg.a.31380