Article
First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency.
Prenatal diagnosis - 1 Dec 2000
Ray P F, Gigarel N, Bonnefont J P, Attié T, Hamamah S, Frydman N, Vekemans M, Frydman R, Munnich A
Abstract excerpt
Ornithine transcarbamylase (OTC) deficiency is an X-linked dominant metabolic disorder with partial penetrance in heterozygous females. Affected boys usually die from hyperammonemia in the first few days of life, while clinical expression in carrier females ranges from no symptoms to neonatal death. A young couple whose boy had died of OTC deficiency in the neonatal period was referred to our genetic department...
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