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Severe, neonatal‐onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11)

OTC deficiency, the most common urea cycle defect, is transmitted as a partially dominant X‐linked trait. The most severe form of the disease, however, is usually restricted to males. We report on monozygotic female twins with severe neonatal‐onset OTC deficiency and a de novo balanced reciprocal translocation t(X;5)(p21.1;q11). Disruption of the OTC gene on the derivative X‐chromosome was confirmed by FISH analysis. Consistent inactivation of the normal X could be demonstrated by RGB staining. Manifestation of X‐linked recessive disorders in females due to a balanced reciprocal X‐autosome translocation has previously been described in Duchenne muscular dystrophy and several other disorders but not in OTC deficiency. This report emphasizes the importance of chromosome analysis in any female manifesting severe OTC deficiency. © 2004 Wiley‐Liss, Inc.