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Prenatal diagnosis of cytochrome c oxidase deficiency by biopsy of chorionic villi. 1988

W Ruitenbeek, and R Sengers, and M Albani, and F Trijbels, and A Janssen, and O van Diggelen, and J Bakkeren

UI MeSH Term Description Entries
D008297 Male Males
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002824 Chorionic Villi Threadlike vascular projections of the chorion. Chorionic villi may be free or embedded within the DECIDUA forming the site for exchange of substances between fetal and maternal blood (PLACENTA). Placental Villi,Labyrinth of the Placenta,Labyrinthine Placenta,Placental Labyrinth Layer,Chorionic Villus,Labyrinth Layer, Placental,Placental Labyrinth Layers,Placental Villus,Villi, Chorionic,Villi, Placental,Villus, Chorionic,Villus, Placental
D005260 Female Females
D005315 Fetal Diseases Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES. Embryopathies,Disease, Fetal,Diseases, Fetal,Embryopathy,Fetal Disease
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015193 Chorionic Villi Sampling A method for diagnosis of fetal diseases by sampling the cells of the placental chorionic villi for DNA analysis, presence of bacteria, concentration of metabolites, etc. The advantage over amniocentesis is that the procedure can be carried out in the first trimester. Biopsy, Chorionic Villi,Chorionic Villus Sampling,Biopsies, Chorionic Villi,Chorionic Villi Biopsies,Chorionic Villi Biopsy,Chorionic Villi Samplings,Chorionic Villus Samplings,Sampling, Chorionic Villi,Sampling, Chorionic Villus,Samplings, Chorionic Villi,Samplings, Chorionic Villus
D030401 Cytochrome-c Oxidase Deficiency A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001) Complex IV Deficiency,Cox Deficiency,Cytochrome C Oxidase Deficiency,Cytochrome Oxidase Deficiency,Deficiency, Cytochrome-c Oxidase,Mitochondrial Complex IV Deficiency,Complex IV Deficiencies,Cox Deficiencies,Cytochrome Oxidase Deficiencies,Cytochrome-c Oxidase Deficiencies,Deficiencies, Complex IV,Deficiencies, Cox,Deficiencies, Cytochrome Oxidase,Deficiencies, Cytochrome-c Oxidase,Deficiency, Complex IV,Deficiency, Cox,Deficiency, Cytochrome Oxidase,Deficiency, Cytochrome c Oxidase,Oxidase Deficiencies, Cytochrome,Oxidase Deficiencies, Cytochrome-c,Oxidase Deficiency, Cytochrome,Oxidase Deficiency, Cytochrome-c

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