{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T19:31:27Z","timestamp":1760297487560},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":8189,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1983,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report two sisters with a deficiency of band 2q32 that resulted from meiotic crossover events in their father, who is a balanced, intrachromosomal insertional translocation heterozygote. This three\u2010break rearrangement involving a single chromosome is among the rarest class of human structural chromosome abnormalities. A review confirms the theoretically predicted high risk of unbalanced progeny for such translocation heterozygotes. Fertility of carriers seems to be unimpaired in either sex. Available information is insufficient to define the effect of insertional translocation on homologue pairing, crossover frequency, and other meiotic phenomena.<\/jats:p>","DOI":"10.1002\/ajmg.1320140125","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T15:34:20Z","timestamp":1118504060000},"page":"189-195","source":"Crossref","is-referenced-by-count":28,"title":["Identical multiple congenital anomalies\/mental retardation (MCA\/MR) syndrome due to del(2)(q32) in two sisters with intrachromosomal insertional translocation in their father"],"prefix":"10.1002","volume":"14","author":[{"given":"G. S.","family":"Pai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. Felix","family":"Rogers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annemarie","family":"Sommer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"70A","article-title":"Trisomy 9q34 mimics the Marfan syndrome","volume":"33","author":"Allderdice PW","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","first-page":"201","volume-title":"Advances in Human Genetics","author":"Carr DH","year":"1971"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb00055.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb01802.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-5223.1974.tb01177.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb04127.x"},{"key":"e_1_2_1_8_1","first-page":"81","volume-title":"Population Cytogenetics, Studies in Humans","author":"Jacobs PA","year":"1977"},{"key":"e_1_2_1_9_1","first-page":"539","article-title":"Banding analysis of abnormal karyotypes in spontaneous abortion","volume":"25","author":"Kajii T","year":"1973","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","first-page":"3","article-title":"Aetiology of spontaneous abortion: A cytogenetic and epidemiological study of 288 abortuses and their parents","volume":"52","author":"Lauritsen JG","year":"1976","journal-title":"Acta Obstet Gynecol Scand (Suppl)"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(80)80146-8"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320040403"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb01790.x"},{"key":"e_1_2_1_14_1","first-page":"371","article-title":"Partial trisomy 1 due to a \u201cshift\u201d and probable location of the Duffy (Fy) locus","volume":"29","author":"Palmer CG","year":"1977","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb00945.x"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.6.507"},{"key":"e_1_2_1_17_1","first-page":"245","article-title":"Interstitial deletion of the long arm of chromosome 2. Case report and review of literature","volume":"24","author":"Taysi K","year":"1981","journal-title":"Ann Genet"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1973.tb00600.x"},{"key":"e_1_2_1_19_1","first-page":"731","article-title":"Interstitial 3p deletion in a child due to paternal paracentric inserted inversion","volume":"32","author":"Wyandt HE","year":"1980","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320040103"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320140125","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320140125","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T21:22:12Z","timestamp":1697750532000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320140125"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,1]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1983,1]]}},"alternative-id":["10.1002\/ajmg.1320140125"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320140125","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1983,1]]}}}