{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:41:16Z","timestamp":1760740876576,"version":"build-2065373602"},"reference-count":3,"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>A 45,X\/46,X,r(X) mosaicism was found in a mother and daughter. Characterisation of the ring by banding studies showed that breakpoints had occurred at bands Xp13 and Xq27. It is confirmed that women heterozygotes for partial deficiencies of the short arm of an X chromosome are fertile. Although the mother developed secondary amenorrhoea at the age of 29, it is suggested that fertility per se may not be affected by deficiencies of the distal part of Xq.<\/jats:p>","DOI":"10.1136\/jmg.17.4.306","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"306-308","source":"Crossref","is-referenced-by-count":6,"title":["Segregation of an X ring chromosome in two generations."],"prefix":"10.1136","volume":"17","author":[{"given":"B","family":"Dallapiccola","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Bruni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Boscherini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A M","family":"Pasquino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Chessa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Vignetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1980,8,1]]},"reference":[{"key":"ref_1","first-page":"378","article-title":"Differences in women heterozygous for a partial deficiency of the short arm of an X chromosome who either had children or had the ability to produce gametes. However, we are not aware of any report of a fertile human X isochromosomes","volume":"12","author":"Priest, J.H.; Blackston, R.D.; Au, K.S.; Day, S.L.","year":"1975","unstructured":"Priest JH, Blackston RD, Au KS, Day SL. Differences in women heterozygous for a partial deficiency of the short arm of an X chromosome who either had children or had the ability to produce gametes. However, we are not aware of any report of a fertile human X isochromosomes. J Med Genet 1975;12:378-89.","journal-title":"J Med Genet"},{"key":"ref_2","first-page":"53","article-title":"secondary amenorrhoea at the age of 29, she became pregnant once, proving that fertility per se may not be affected by deficiencies of the distal part of Xq. Therefore, the evidence from Xpfemales and Reid LB, Merkatz IR. Genetically determined sexreversal in 46, XY humans","volume":"202","author":"German, J.; Simpson, J.L.; Chaganti, R.S.K.; Summitt, R.L.","year":"1978","unstructured":"German J, Simpson JL, Chaganti RSK, Summitt RL, secondary amenorrhoea at the age of 29, she became pregnant once, proving that fertility per se may not be affected by deficiencies of the distal part of Xq. Therefore, the evidence from Xpfemales and Reid LB, Merkatz IR. Genetically determined sexreversal in 46,XY humans. Science 1978;202:53-6.","journal-title":"Science"},{"key":"ref_3","first-page":"11","article-title":"Ovarian dysfunction in balanced Xautosome translocations: report of two cases involving from the present observation indicates that the distal band Xq21","volume":"22","author":"Forabosco, A.; Giorgi, G.L.; Tarantino, E.; Formica, A.; Dallapiccola, B.","year":"1979","unstructured":"Forabosco A, Giorgi GL, Tarantino E, Formica A, Dallapiccola B. Ovarian dysfunction in balanced Xautosome translocations: report of two cases involving from the present observation indicates that the distal band Xq21. Ann Genet (Paris) 1979;22:11-6."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.17.4.306","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:13:04Z","timestamp":1760739184000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.17.4.306"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,8]]},"references-count":3,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1980,8,1]]},"published-print":{"date-parts":[[1980,8]]}},"alternative-id":["10.1136\/jmg.17.4.306"],"URL":"https:\/\/doi.org\/10.1136\/jmg.17.4.306","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1980,8]]}}}