{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T11:30:12Z","timestamp":1774611012617,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,6,11]],"date-time":"2002-06-11T00:00:00Z","timestamp":1023753600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Poly\u2010Y karyotypes, except for 47,XYY, are rare events in humans. For instance, Y chromosome tetrasomy has been reported 10 times, 2 of which were by structural rearrangement. We present a 2\u2010year\u2010and\u20104\u2010month\u2010old boy who was referred for cytogenetic assessment because of global psychomotor delay. The GTG\u2010 and CBG\u2010banded karyotypes on PHA\u2010stimulated lymphocytes showed two cell populations, one of them contained two identical isodicentric Y chromosomes, which was seen in 93% of metaphases analyzed, and a 45,X cell line (7%). This was confirmed by FISH with probes DYZ3 (recognizing the centromeric region of the Y chromosome), 91H4.5 (recognizing Yp11.2), and DYZ1 (recognizing Y heterochromatin in Yq12). The breakpoint has occurred near the telomeric end of the heterochromatic region. Therefore, the karyotype is mos 47,X,idic(Y)(q12)x2[123]\/45,X[9]. This is the second time that such a karyotype has been reported. This chromosomal anomaly was formed most likely by a U\u2010type exchange. Clinical features included speech delay, short stature, brachycephaly, large ears, bilateral epicanthal folds, hypertelorism, delayed teeth eruption, bilateral radio\u2010ulnar synostosis, bilateral fifth finger clinodactyly, normal external genitalia, and impulsive behavior. The father had normal phenotype and karyotype. A review of the tetrasomy Y patients is presented. All patients with Y chromosome tetrasomy exhibit some degree of mental retardation, various skeletal abnormalities, and facial dysmorphism. Nevertheless, the correlation between karyotype and phenotype is not yet well defined since few cases have been reported. This clinical report will be helpful in defining the phenotypic range associated with tetrasomy Y. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10591","type":"journal-article","created":{"date-parts":[[2002,9,5]],"date-time":"2002-09-05T20:26:02Z","timestamp":1031257562000},"page":"401-404","source":"Crossref","is-referenced-by-count":17,"title":["Tetrasomy Y by structural rearrangement: Clinical report"],"prefix":"10.1002","volume":"111","author":[{"given":"Martin","family":"DesGroseilliers","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuelle","family":"Lemyre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louis","family":"Dallaire","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Lemieux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,6,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1993.tb04447.x"},{"key":"e_1_2_6_3_1","first-page":"47","article-title":"Peculiar mosaicism 47,XYY\/48,XYYY\/49,XYYYY in man","volume":"28","author":"Gigliani F","year":"1980","journal-title":"J Genet Hum"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.10.1.80"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1998.5440413.x"},{"key":"e_1_2_6_6_1","volume-title":"Smith's recognizable patterns of human malformation","author":"Jones KL","year":"1997"},{"key":"e_1_2_6_7_1","first-page":"A95","article-title":"A nine year old boy with bone and joint abnormalities and a unique genetic tetrasomy Y","volume":"57","author":"Kyriakakos A","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000133277"},{"key":"e_1_2_6_9_1","first-page":"111","article-title":"Un gar\u00e7on de sept ans 49,XYYYY","volume":"31","author":"No\u00ebl B","year":"1988","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb00090.x"},{"key":"e_1_2_6_11_1","first-page":"299","article-title":"Le syndrome 49,XYYYY: \u00e0 propos d'un cas d\u00e9pist\u00e9 \u00e0 la naissance et suivi depuis deux ans et demi","volume":"32","author":"Plauchu H","year":"1984","journal-title":"J G\u00e9n\u00e9t Hum"},{"key":"e_1_2_6_12_1","first-page":"917","article-title":"A rapid banding technique for human chromosomes","volume":"2","author":"Seabright M","year":"1971","journal-title":"Lancet"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981102)80:2<103::AID-AJMG2>3.0.CO;2-1"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb00676.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4827(72)90558-7"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(88)90110-6"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-28-9-1370"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10591","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10591","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,19]],"date-time":"2023-11-19T11:22:46Z","timestamp":1700392966000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10591"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,6,11]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,9]]}},"alternative-id":["10.1002\/ajmg.10591"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10591","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,6,11]]}}}