{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,1,15]],"date-time":"2024-01-15T03:18:55Z","timestamp":1705288735579},"reference-count":20,"publisher":"Cambridge University Press (CUP)","issue":"2","license":[{"start":{"date-parts":[[2014,8,1]],"date-time":"2014-08-01T00:00:00Z","timestamp":1406851200000},"content-version":"unspecified","delay-in-days":15828,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta genet. med. gemellol."],"published-print":{"date-parts":[[1971,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>A survey of chromosomal abnormalities has been carried out in Italy since 1966. Among the 1,551 subjects examined, the following abnormalities were found: 2 cases of C\/C translocation, 1 of D\/C, 5 of D\/D, and 9 of D\/G; 2 cases of Patau's syndrome with D trisomy; 4 cases of Edwards' syndrome; 176 cases of Down's syndrome, of which 163 with regular trisomy, 4 with mosaicism, 7 with D\/G translocation, 1 with G\/G translocation, and 1 with C\/G translocation; 10 cases with 47,XXY complement; 1 case with 46,XY\/47,XXY\/48,XXXY mosaicism; 4 cases with 45,XO karyotype; 3 with 45,XO\/46,XX, 1 with 45,XO\/46,XY, 2 with 45,XO\/46,XX<jats:sub>r<\/jats:sub> and 1 with 45,XO\/46,XX<jats:sub>i<\/jats:sub> mosaicism; 2 cases with 47,XYY complement; 2 phenotypic females with 46, XY karyotype; and 5 leukaemic patients with Ph chromosome.<\/jats:p><jats:p>Furthermore, several kinds of normal variants were observed, such as no. 9 prominent secondary constriction, chromosome-D or -G enlarged short arm, 16-pair heteromorphism, Y-chromosome polymorphism, and satellited E chromosome.<\/jats:p>","DOI":"10.1017\/s1120962300011598","type":"journal-article","created":{"date-parts":[[2016,7,27]],"date-time":"2016-07-27T09:51:44Z","timestamp":1469613104000},"page":"123-173","source":"Crossref","is-referenced-by-count":7,"title":["Chromosomal Survey in 298 Normal Subjects and 1,253 Cases of Congenital Disorders during 1966-1970"],"prefix":"10.1017","volume":"20","author":[{"given":"E.","family":"Battaglia","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Guanti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Barsanti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Petrinelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2014,8,1]]},"reference":[{"key":"S1120962300011598_ref017","doi-asserted-by":"publisher","DOI":"10.1017\/S1120962300014815"},{"key":"S1120962300011598_ref005","doi-asserted-by":"publisher","DOI":"10.1017\/S1120962300012324"},{"key":"S1120962300011598_ref002","first-page":"295","article-title":"La perizia cromosomica","volume":"1","author":"Battaglia","year":"1966","journal-title":"Ann. 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Giurisprudenza (Bari)"},{"key":"S1120962300011598_ref011","volume-title":"Aspetti genetici, psicologici ed etico-sociali della sindrome del doppio Y","author":"Morea","year":"1970"},{"key":"S1120962300011598_ref013","volume-title":"Dermatoglyphics in Marfan's syndrome","author":"Pansini","year":"1970"},{"key":"S1120962300011598_ref016","first-page":"516","article-title":"Rilievi citogenetici nella leucemia mieloide cronica nella infanzia","volume":"21","author":"Schettini","year":"1969","journal-title":"Minerva Pediat."},{"key":"S1120962300011598_ref018","first-page":"264","article-title":"Indagini cliniche e citogenetiche in due casi di malattia di Morquio-Ullrich","volume":"2","author":"Torelli","year":"1969","journal-title":"Pediatria (Napoli)"},{"key":"S1120962300011598_ref010","volume-title":"A case of Fanconi's anemia: clinical and cytogenetics findings","author":"Guanti","year":"1970"},{"key":"S1120962300011598_ref020","first-page":"47","article-title":"Indagini citogenetiche e dermatoglifiche su due casi di sindrome di Rothmund-Thompson","volume":"3","author":"Vecchio","year":"1969","journal-title":"Atti 33\u00b0 Gongr. It. Pediat."},{"key":"S1120962300011598_ref001","first-page":"463","article-title":"Etude chromosomique dans l'albinisme universel complet avec nystagmus","volume":"202","author":"Balacco-Gabrieli","year":"1969","journal-title":"Ann. Oculist. (Paris)"},{"key":"S1120962300011598_ref014","first-page":"115","article-title":"Rilievi radiologici, radio-nefrografici e citogenetici sul rene a spugna midollare","volume":"2","author":"Racanelli","year":"1968","journal-title":"Puglia Chirurgica"},{"key":"S1120962300011598_ref015","volume-title":"Disturbi della personalit\u00e0 in un soggetto YY","author":"Rutigliano","year":"1970"},{"key":"S1120962300011598_ref012","doi-asserted-by":"publisher","DOI":"10.1159\/000129981"},{"key":"S1120962300011598_ref003","first-page":"332","article-title":"Cariotipo anomalo 47,XX,t (Gq Cq\u2014)+,Cq\u2014","volume":"13","author":"Guanti","year":"1968","journal-title":"Atti A.G.I."},{"key":"S1120962300011598_ref007","first-page":"489","article-title":"A case of trisomy D1 - Syndrome of Patau","volume":"23","author":"Guanti","year":"1970","journal-title":"Garyologia"},{"key":"S1120962300011598_ref008","volume-title":"An autoradiographic investigation of the chromosomes showing a D\/D translocation","author":"Guanti","year":"1970"},{"key":"S1120962300011598_ref004","first-page":"1","article-title":"Indagine genetica sulla retinosi pigmentosa in terra di Bari","volume":"3","author":"Guanti","year":"1968","journal-title":"Riv. It. Tracoma Patol. Ocul. Vir. Esotica"},{"key":"S1120962300011598_ref019","first-page":"131","article-title":"Un caso di cromosoma X ad anello","volume":"1","author":"Vecchio","year":"1969","journal-title":"Acta Med. Auxol."},{"key":"S1120962300011598_ref006","first-page":"89","article-title":"Cariotipo 47,XYY: descrizione di due nuovi casi","volume":"15","author":"Guanti","year":"1970","journal-title":"Atti A.G.I."},{"key":"S1120962300011598_ref009","volume-title":"A family with a balanced C\/C translocation carrier and an unbalanced son 47,XY,(Cq\u2014)+","author":"Guanti","year":"1970"}],"container-title":["Acta geneticae medicae et gemellologiae"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1120962300011598","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,31]],"date-time":"2019-05-31T20:14:15Z","timestamp":1559333655000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1120962300011598\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1971,4]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1971,4]]}},"alternative-id":["S1120962300011598"],"URL":"https:\/\/doi.org\/10.1017\/s1120962300011598","relation":{},"ISSN":["1120-9623","2059-6316"],"issn-type":[{"value":"1120-9623","type":"print"},{"value":"2059-6316","type":"electronic"}],"subject":[],"published":{"date-parts":[[1971,4]]}}}