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- Title
Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia.
- Authors
Segues, Bertrand; Rozet, Jean-Michel; Gilbert, Brigitte; Saugier-Veber, Pascale; Rabier, Daniel; Saudubray, Jean-Marie; Carré, Mireille; Rouleau, Françoise Parrot; Menget, Alain; Bonardi, Jean-Michel; Lyonnet, Stanislas; Bonnefont, Jean-Paul; Munnich, Arnold
- Abstract
Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder of the urea cycle mapped to chromosome Xp21.1. Here, we show that apparent segregation of null alleles at the OTC locus and flanking polymorphic loci mimicked false maternity or false paternity in three affected families. Based on these observations, we suggest giving consideration to gene deletion when dealing with segregation of null alleles in OTC deficiency.
- Publication
Prenatal Diagnosis, 1995, Vol 15, Issue 8, p757
- ISSN
0197-3851
- Publication type
Article
- DOI
10.1002/pd.1970150812