{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T02:50:44Z","timestamp":1761706244436,"version":"build-2065373602"},"reference-count":16,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1980,8]]},"abstract":"<jats:p>The 64Cu incorporation into fibroblast clones obtained from three obligate and three suspected Menkes disease heterozygotes was studied. For each obligate heterozygote, two clonal cell populations were observed, one with a Menkes phenotype and one with a normal phenotype, as predicted by the Lyon hypothesis. The cloning results suggested a heterozygous state in two of the suspected carriers. The theoretical and practical limitation of the cloning method for identification of carriers of X linked diseases are discussed.<\/jats:p>","DOI":"10.1136\/jmg.17.4.262","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"262-266","source":"Crossref","is-referenced-by-count":20,"title":["Menkes X linked disease: two clonal cell populations in heterozygotes."],"prefix":"10.1136","volume":"17","author":[{"given":"N","family":"Horn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Mooy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V M","family":"McGuire","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1980,8,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1140","DOI":"10.1126\/science.179.4078.1140","article-title":"Menkes' kinky hair disease: further definition of the defect in copper transport","volume":"179","author":"Danks, D.M.; Cartwright, E.; Stevens, E.J.; Townley, R.R.W.","year":"1973","unstructured":"Danks DM, Cartwright E, Stevens EJ, Townley RRW. Menkes' kinky hair disease: further definition of the defect in copper transport. Science 1973;179:1140-2.","journal-title":"Science"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/BF00430357","article-title":"Extra-hepatic storage of copper. A male foetus suspected of Menkes disease","volume":"29","author":"Heydorn, K.; Damsgaard, E.; Horn, N.; Mikkelsen, M.; Tygstrup, I.; Vestermark, S.; Weber, J.","year":"1975","unstructured":"Heydorn K, Damsgaard E, Horn N, Mikkelsen M, Tygstrup I, Vestermark S, Weber J. Extra-hepatic storage of copper. A male foetus suspected of Menkes disease. Hum Genet 1975;29:171-5.","journal-title":"Hum Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1111\/j.1399-0004.1978.tb02128.x","article-title":"Is Menkes syndrome a copper storage disorder?","volume":"14","year":"1978","unstructured":"Horn N, Heydorn K, Damsgaard E, Tygstrup 1, Vestermark S. Is Menkes syndrome a copper storage disorder? 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A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 1962;29:764-79.","journal-title":"Pediatrics"},{"key":"ref_6","first-page":"1100","article-title":"Menkes' kinkyhair syndrome","volume":"i:","author":"Danks, D.M.; Campbell, P.E.; Stevens, B.J.; Gillespie, J.M.; Walker-Smith, J.; Blomfield, J.; Turner, B.","year":"1972","unstructured":"Danks DM, Campbell PE, Stevens BJ, Gillespie JM, Walker-Smith J, Blomfield J, Turner B. Menkes' kinkyhair syndrome. Lancet 1972;i:1100-3.","journal-title":"Lancet"},{"key":"ref_7","first-page":"188","article-title":"Menkes' kinky hair syndrome. An inherited defect in copper absorption with widespread effects","volume":"50","author":"Danks, D.M.; Campbell, P.E.; Stevens, B.J.; Mayne, V.; Cartwright, E.","year":"1972","unstructured":"Danks DM, Campbell PE, Stevens BJ, Mayne V, Cartwright E. Menkes' kinky hair syndrome. An inherited defect in copper absorption with widespread effects. Pediatrics 1972;50:188-201.","journal-title":"Pediatrics"},{"key":"ref_8","first-page":"156","article-title":"Copper incorporation studies on cultured cells for prenatal diagnosis of Menkes'","volume":"i:","author":"Horn, N.","year":"1976","unstructured":"Horn N. Copper incorporation studies on cultured cells for prenatal diagnosis of Menkes' disease. Lancet 1976; i: 156-8.","journal-title":"disease. Lancet"},{"issue":"1977","key":"ref_9","first-page":"56","article-title":"Prenatal detection of Menkes' disease and copper distribution in affected foetuses","volume":"426","author":"Horn, N.; Heydorn, K.","unstructured":"Horn N, Heydorn K. Prenatal detection of Menkes' disease and copper distribution in affected foetuses. Excerpta Medica International Congress Series No 426 1977:56-7.","journal-title":"Excerpta Medica International Congress Series No"},{"issue":"47","key":"ref_10","first-page":"3220","article-title":"Prenatal diagnostik af Menkes'","volume-title":"sygdom. Ugeskr Laeger","volume":"141","author":"Horn, N.","year":"1979","unstructured":"Horn N. Prenatal diagnostik af Menkes' sygdom. Ugeskr Laeger 1979;141\/47:3220-2."},{"key":"ref_11","first-page":"135","article-title":"Sex chromatin and gene action in the mammalian X-chromosome","volume":"14","author":"Lyon, M.F.","year":"1962","unstructured":"Lyon MF. Sex chromatin and gene action in the mammalian X-chromosome. Am J Hum Genet 1962;14:135-48.","journal-title":"Am J Hum Genet"},{"key":"ref_12","first-page":"244","article-title":"Menkes kinky hair syndrome in a black infant","volume":"128","author":"Volpinsta, E.J.","year":"1974","unstructured":"Volpinsta EJ. Menkes kinky hair syndrome in a black infant. Am J Dis Child 1974;128:244-6.","journal-title":"Am J Dis Child"},{"key":"ref_13","first-page":"607","article-title":"Pili torti as marker for carriers of Menkes disease","volume":"i:","author":"Collie, W.R.; Moore, C.M.; Goka, T.J.; Howell, R.R.","year":"1978","unstructured":"Collie WR, Moore CM, Goka TJ, Howell RR. Pili torti as marker for carriers of Menkes disease. Lancet 1978;i: 607-8.","journal-title":"Lancet"},{"key":"ref_14","first-page":"\"265","article-title":"Protein measurement with the folin phenol reagent","volume":"193","author":"Lowry, O.H.; Rosebrough, N.J.; Farr, A.L.; Randall, R.J.","year":"1951","unstructured":"Lowry OH, Rosebrough NJ, Farr AL, Randall RJ. Protein measurement with the folin phenol reagent. J Biol Chem 1951;193:265-75. 14& Horn N. Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures. J Med Genet 1980;17: 257-61.","journal-title":"J Biol Chem; Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1159\/000401584","article-title":"Copper metabolism in Menkes disease","volume":"10","author":"Goka, T.J.; Howell, R.R.","year":"1978","unstructured":"Goka TJ, Howell RR. Copper metabolism in Menkes disease. Monogr Hum Genet 1978;10:148-55.","journal-title":"Monogr Hum Genet"},{"key":"ref_16","first-page":"94","article-title":"Exclusion of chromosomal mosaicism: tables of 90 %, 95 % and 99 % confidence limits and comments on use","volume":"29","author":"Hook, E.B.","year":"1977","unstructured":"Hook EB. Exclusion of chromosomal mosaicism: tables of 90 %, 95 % and 99 % confidence limits and comments on use. 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