First trimester prenatal diagnosis of Menkes disease by DNA analysis

Journal of Medical Genetics

Volumn 31, Issue 8, 1994, Pages 615-617

  Tümer, Zeynep ^a   Tønnesen, Tønne ^a   Böhmann, Johann ^b   Marg, Wolfgang ^c   Horn, Nina ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b Städtische Krankenstalten ^*  (Germany)

^c Prof Hess Pädiatrische Klinik   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BIOCHEMISTRY; CASE REPORT; CONTROLLED STUDY; DNA DETERMINATION; FETUS; FIRST TRIMESTER PREGNANCY; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INTERMETHOD COMPARISON; MALE; MENKES SYNDROME; MOTHER; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 0028015745     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.31.8.615     Document Type: Article

References (9)

1. Horn N, Tønnesen T, Tümer Z. Menkes disease: an X-linked neurological disorder of the copper metabolism. Brain Pathol 1992;2:351-62.
2. Tümer Z, Horn N, Tønnesen T, Tommerup N. Mapping of the Menkes locus to Xq13,3 distal to the X-inactivation center by an intrachromosome insertion of the segment Xq13.3-q21.2. Hum Genet 1992;88:668-72.
3. Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nature Genet 1993;3:7-13.
4. Chelly J, Tümer Z, Tønnesen T, et al. Isolation of a candidate gene for Menkes disease that encodes for a potential heavy metal binding protein. Nature Genet 1993;3:14-19.
5. Mercer JFB, Livingston J, Hall B, et al. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genet 1993;3:20-5.
6. Tümer Z, Tønnesen T, Horn N. Detection of genetic defects in Menkes disease by direct mutation analysis and its implication in carrier diagnosis. J Inher Metab Dis (in press).
7. Maniatis T, Fritsch E, Sambrook J. Molecular cloning: a laboratory manual. Cold Spring Harbor: Cold Spring Harbour Laboratory Press, 1982.
8. Tønnesen T, Horn N. Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism. J Inher Metab Dis 1989;1(suppl 12):207-14.
9. Horn N. Menkes' X-linked disease; prenatal diagnosis and carrier detection. J Inher Metab Dis 1983;1(suppl 6):59-62.