{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:10:02Z","timestamp":1760739002608,"version":"build-2065373602"},"reference-count":19,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1977,10]]},"abstract":"<jats:p>A case of leprechaunism with a chromosomal abnormality is reported. The patient was a female infant, born to healthy, consanguineous young parents. Her course was one of extreme marasmus, with death at 3 months of age. She presented the classical features of the syndrome and chromosome mosaicism 46, XX\/47, XX, +r(?). It was not possible to identify the origin of the extra ring chromosome. It is difficult to establish the role of such a cytogenetic finding in the aetiology of the syndrome.<\/jats:p>","DOI":"10.1136\/jmg.14.5.383","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"383-386","source":"Crossref","is-referenced-by-count":3,"title":["Leprechaunism with mosaicism 46, XX\/47, XX extra ring chromosome."],"prefix":"10.1136","volume":"14","author":[{"given":"V","family":"Ventruto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Sebastio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Sebastio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R V","family":"DeMasi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U","family":"Vota","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Farina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Festa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1977,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1136\/jmg.10.1.74","article-title":"Human dicentric Y chromosomes","volume":"10","author":"Aceto, T.A.","year":"1973","unstructured":"Aceto, T. A. (1973). Human dicentric Y chromosomes. Journal of Medical Genetics, 10, 74-79.","journal-title":"Journal of Medical Genetics"},{"key":"ref_2","first-page":"\"381","article-title":"Structure and inheritance of some heterozygous Robertsonian translocations in man","volume":"13","author":"Daniel, A.; Lam-po-tang, P.R.L.C.","year":"1976","unstructured":"Daniel, A., and Lam-po-tang, P. R. L. C. (1976). Structure and inheritance of some heterozygous Robertsonian translocations in man. Journal of Medical Genetics, 13, 381-388. de la Chapelle, A., and Stenstrand, K. (1974). Dicentric human X chromosomes. Hereditas, 76, 259-268.","journal-title":"Journal of Medical Genetics; Dicentric human X chromosomes"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1136\/jmg.13.6.496","article-title":"Dicentric X isochromosomes in man","volume":"13","author":"Howell, R.T.; Roberts, S.H.; Beard, R.J.","year":"1976","unstructured":"Howell, R. T., Roberts, S. H., and Beard, R. J. (1976). Dicentric X isochromosomes in man. Journal of Medical Genetics, 13, 496-500.","journal-title":"Journal of Medical Genetics"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1007\/BF00273467","article-title":"Dicentric and monocentric Robertsonian translocations in man","volume":"16","author":"Niebuhr, E.","year":"1972","unstructured":"Niebuhr, E. (1972a). Dicentric and monocentric Robertsonian translocations in man. Human Genetics, 16, 217-226.","journal-title":"Human Genetics"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1159\/000130186","article-title":"A 45, XX,5-13-dic+ karyotype in a case of cri-du-chat syndrome","volume":"11","author":"Niebuhr, E.","year":"1972","unstructured":"Niebuhr, E. (1972b). A 45,XX,5-13-dic+ karyotype in a case of cri-du-chat syndrome. Cytogenetics, 11, 165-177.","journal-title":"Cytogenetics"},{"key":"ref_6","first-page":"439","article-title":"A stable human dicentric chromosome, t dic(12; 14) (pl3; pl3) including an intercalary satellite region between centromeres","volume":"25","author":"Warburton, D.; Henderson, A.S.; Shapiro, L.R.; Hsu, L.Y.F.","year":"1973","unstructured":"Warburton, D., Henderson, A. S., Shapiro, L. R., and Hsu, L. Y. F. (1973). A stable human dicentric chromosome, t dic(12;14) (pl3;pl3) including an intercalary satellite region between centromeres. American Journal of Human Genetics, 25, 439-445.","journal-title":"American Journal of Human Genetics"},{"key":"ref_7","article-title":"Lymphocytes were cultured by standard methods","volume-title":"Trypsin-Giemsa staining was employed to produce chromosome banding","author":"(Seabright,","year":"1960","unstructured":"Lymphocytes were cultured by standard methods. (Moorhead et al., 1960). Trypsin-Giemsa staining was employed to produce chromosome banding (Seabright, 1972). Two cell lines were observed; one normal 46,XX, the other including 47 chromosomes. The accessory chromosome (Fig. 4) appeared to be a small ring, the origin of which could not be determined. It was noted in 52 of 102 lymphocytes analysed, and its morphology was variable. A buccal smear was X-chromatin positive. Karyotypes of the parents were normal."},{"key":"ref_8","unstructured":"Leprechaunism is a rare syndrome, characterised by unusual, grotesque facies, multiple other malformations, progressive marasmus, and early death (Donohue and Uchida, 1954). Evidence suggests that it is genetically determined, and in some families appears to conform to an autosomal recessive mode of inheritance. Functional and morphological endocrine abnormalities have been described; cystic follicles of the ovaries have been prominent","article-title":"Leprechaunism is a rare syndrome, characterised by unusual, grotesque facies, multiple other malformations, progressive marasmus, and early death (Donohue and Uchida, 1954). Evidence suggests that it is genetically determined, and in some families appears to conform to an autosomal recessive mode of inheritance. Functional and morphological endocrine abnormalities have been described; cystic follicles of the ovaries have been prominent"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1136\/jmg.3.2.134","article-title":"An unstable ring chromosome in a female infant with hypotonia, seizures, and retarded development","volume":"3","author":"Atkins, L.; Sceery, R.T.; Keenan, M.E.","year":"1966","unstructured":"Atkins, L., Sceery, R. T., and Keenan, M. E. (1966). An unstable ring chromosome in a female infant with hypotonia, seizures, and retarded development. Journal of Medical Genetics, 3, 134-138.","journal-title":"Journal of Medical Genetics"},{"key":"ref_10","first-page":"265","article-title":"D6ltion interstitielle du bras long d'un chromosome 7 chez une enfant lepr6chaune","volume":"19","author":"Ayraud, N.; Rovinski, J.; Lambert, J.C.; Galiana, A.","year":"1976","unstructured":"Ayraud, N., Rovinski, J., Lambert, J. C., and Galiana, A. (1976). D6ltion interstitielle du bras long d'un chromosome 7 chez une enfant lepr6chaune. Annales de Genetique, 19, 265-268.","journal-title":"Annales de Genetique"},{"key":"ref_11","first-page":"505","volume":"45","author":"Donohue, W.L.; Uchida, I.","year":"1954","unstructured":"Donohue, W. L., and Uchida, I. (1954). Leprechaunism. Journal ofPediatrics, 45, 505-519.","journal-title":"Leprechaunism. Journal ofPediatrics"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1016\/S0022-3476(65)80195-0","article-title":"Leprechaunism (Donohue's syndrome)","volume":"66","author":"Kallo, A.; Lakatos, I.; Szijarto, L.","year":"1965","unstructured":"Kallo, A., Lakatos, I., and Szijarto, L. (1965). Leprechaunism (Donohue's syndrome). Journal ofPediatrics, 66, 372-375.","journal-title":"Journal ofPediatrics"},{"key":"ref_13","first-page":"437","article-title":"Mendelian Inheritance in Man","author":"McKusick, V.A.","year":"1971","unstructured":"McKusick, V. A. (1971). Mendelian Inheritance in Man, 3rd ed., p. 437. Johns Hopkins Press, Baltimore and London.","edition":"3rd ed"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/0014-4827(60)90138-5","article-title":"Chromosome preparations from leucocytes cultured from human peripheral blood","volume":"20","author":"Moorhead, P.S.; Nowell, P.C.; Mellman, W.J.; Battips, D.M.; Hungerford, D.A.","year":"1960","unstructured":"Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., and Hungerford, D. A. (1960). Chromosome preparations from leucocytes cultured from human peripheral blood. Experimental Cell Research, 20, 613-616.","journal-title":"Experimental Cell Research"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1016\/S0022-3476(62)80100-0","article-title":"Leprechaunism in a male infant","volume":"60","author":"Patterson, J.H.; Watkins, W.L.","year":"1962","unstructured":"Patterson, J. H., and Watkins, W. L. (1962). Leprechaunism in a male infant. Journal ofPediatrics, 60, 730-739.","journal-title":"Journal ofPediatrics"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1007\/BF00285214","article-title":"The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosome of man","volume":"36","author":"Seabright, M.","year":"1972","unstructured":"Seabright, M. (1972). The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosome of man. Chromosoma, 36, 204-210.","journal-title":"Chromosoma"},{"key":"ref_17","first-page":"571","article-title":"InBirth Defects. Atlasand Compendium","volume-title":"National Foundation-March of Dimes","author":"Summitt, R.L.","year":"1974","unstructured":"Summitt, R. L. (1974). InBirth Defects. Atlasand Compendium p. 571. National Foundation-March of Dimes."},{"issue":"601-610","key":"ref_18","article-title":"Leprechaunism (Donohue syndrome): a case report","volume":"74","author":"Summitt, R.L.; Favara, B.E.","year":"1969","unstructured":"Summitt, R. L., and Favara, B. E. (1969). Leprechaunism (Donohue syndrome): a case report. Journal of Pediatrics, 74,601-610.","journal-title":"Journal of Pediatrics"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1136\/jmg.6.3.334","article-title":"Ring chromosomes in two infants with congenital malformations","volume":"6","author":"Varela, M.A.; Sternberg, W.H.","year":"1969","unstructured":"Varela, M. A., and Sternberg, W. H. (1969). Ring chromosomes in two infants with congenital malformations. Journal of Medical Genetics, 6, 334-341.","journal-title":"Journal of Medical Genetics"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.14.5.383","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:49:14Z","timestamp":1760737754000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.14.5.383"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1977,10]]},"references-count":19,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1977,10,1]]},"published-print":{"date-parts":[[1977,10]]}},"alternative-id":["10.1136\/jmg.14.5.383"],"URL":"https:\/\/doi.org\/10.1136\/jmg.14.5.383","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1977,10]]}}}