{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T10:40:11Z","timestamp":1697193611143},"reference-count":20,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2006,4,4]],"date-time":"2006-04-04T00:00:00Z","timestamp":1144108800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2006,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A woman with apparent 45,X Ullrich\u2013Turner syndrome was ascertained after the birth of three girls, the last being growth retarded due to a del(X)(p22.11) of grand\u2010paternal origin. In this woman no del(X)\u2010chromosome was detectable in blood by FISH or PCR. Fibroblast cultures from four different biopsies of her skin varied from having 45,X only to mosaic 46,X,del(X) to 46,X,del(X) only. In one fibroblast culture, a few cells with two del(X) chromosomes were found, probably remnants of a paternal dicentric X that caused the condition. Her three daughters were born when she was 29, 31, and 39 years old, respectively, indicating that disomy for the distal half of Xp is not required for normal folliculogenesis. When studying the crossover pattern of her daughters' <jats:italic>maternal<\/jats:italic> X\u2010chromosomes, it turned out that one daughter had an X that was exclusively grand\u2010maternal, one daughter lacked crossovers on Xq, and one daughter lacked crossovers on Xp. This suggests that univalent X\u2010chromosomes were present in the Ullrich\u2013Turner patient's primordial egg cells, either because there was only a single X\u2010chromosome present (a 45,X primary oocyte), or because the X\u2010chromosome was a partially or completely unpaired in pachytene, indicating a problem with chromosome association and synapsis formation. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31204","type":"journal-article","created":{"date-parts":[[2006,4,5]],"date-time":"2006-04-05T03:16:40Z","timestamp":1144207000000},"page":"1092-1097","source":"Crossref","is-referenced-by-count":1,"title":["Lack of meiotic crossovers during oogenesis in an apparent 45,X Ullrich\u2013Turner syndrome patient with three children"],"prefix":"10.1002","volume":"140A","author":[{"given":"Gunnar","family":"Houge","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helge","family":"Boman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helle","family":"Lyb\u00e6k","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gro O.","family":"Ness","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petur B.","family":"Juliusson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,4,4]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000063045"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610107.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2004.02.129"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.580307.x"},{"key":"e_1_2_5_6_1","volume-title":"Chromosome abnormalities and genetic couseling","author":"Gardner RJM","year":"2004"},{"key":"e_1_2_5_7_1","first-page":"297","article-title":"The parental origin of the missing or additional chromosome in 45,X and 47,XXX females","volume":"26","author":"Hassold T","year":"1990","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00197261"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-1809.1997.6160471.x"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/156.2.775"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980106)75:1<1::AID-AJMG1>3.0.CO;2-Z"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1994.tb04001.x"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.82.6.1810"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.3109\/00016347609156930"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981204)80:4<436::AID-AJMG26>3.0.CO;2-4"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.1989.tb03332.x"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000080599"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1484"},{"key":"e_1_2_5_19_1","doi-asserted-by":"crossref","unstructured":"VarelaM ShapiraE HymanDB.1991.Ullrich\u2010Turner syndrome in mother and daughter: Prenatal diagnosis of a 46 X del(X)(p21) offspring from a 45 X mother with low\u2010level mosaicism for the del(X)(p21) in one ovary. 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