{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:32:44Z","timestamp":1777329164335,"version":"3.51.4"},"reference-count":22,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2021,11,1]],"date-time":"2021-11-01T00:00:00Z","timestamp":1635724800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>A case study of a 4 year old child with hypospadias and cryptorchidism on the right side is presented. Combined analysis by Karyotype and FISH showed a mosaic pattern of 48, XYYY (73%); 47,XYY (7%); 46,XY (7%) and 45,X (13%). Apart from hypospadias and cryptorchidism there were no significant phenotypic changes observed. Inheritance of this clonal abnormality was ruled out as the karyotype patterns of the child's father and brother both showed a normal karyotype. For further management, genetic counseling, and the correction of hypospadias and the undescended testis were recommended.<\/jats:p>","DOI":"10.2478\/bjmg-2021-0029","type":"journal-article","created":{"date-parts":[[2022,6,4]],"date-time":"2022-06-04T17:05:12Z","timestamp":1654362312000},"page":"103-106","source":"Crossref","is-referenced-by-count":2,"title":["48,XYYY: A Rare Case Report"],"prefix":"10.2478","volume":"24","author":[{"given":"AS","family":"Sabnis","sequence":"first","affiliation":[{"name":"Department of Anatomy , MGM Medical College and Hospital , Kamothe , Navi Mumbai , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Bhusare","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery , MGM Medical College and Hospital , Kamothe , Navi Mumbai , India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2022,6,5]]},"reference":[{"key":"2026042716342730652_j_bjmg-2021-0029_ref_001","doi-asserted-by":"crossref","unstructured":"Visootsak J, Graham JM. Klinefelter syndrome and other sex chromosomal aneuploidies. Jr Orphanet J Rare Dis. 2006; 1: 42.","DOI":"10.1186\/1750-1172-1-42"},{"key":"2026042716342730652_j_bjmg-2021-0029_ref_002","doi-asserted-by":"crossref","unstructured":"Gekas J, Thepot F, Turleau C, Siffroi JP, Dadoune JP, Briault S, Rio M, Bourouillou G, Carr\u00e9-Pigeon F, Wasels R, Benzacken B. Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men. Association des Cytogeneticiens de Langue Francaise. Hum Reprod. 2001; 16(1): 82\u201390.","DOI":"10.1093\/humrep\/16.1.82"},{"key":"2026042716342730652_j_bjmg-2021-0029_ref_003","unstructured":"Barch MJ, Knutsen T, Spurbeck JL. The AGT Cytogenetics Laboratory Manual, 3rd Edition, Lippincott-Raven, Philadelphia. 1997, Peripheral blood cytogenetic methods, 77\u201387."},{"key":"2026042716342730652_j_bjmg-2021-0029_ref_004","doi-asserted-by":"crossref","unstructured":"Schoepfllin GS, Centerwall WR, 48,XYYY: A new syndrome. Journal of medical Genetics. 1972; 9(3): 356\u2013360.","DOI":"10.1136\/jmg.9.3.356"},{"key":"2026042716342730652_j_bjmg-2021-0029_ref_005","doi-asserted-by":"crossref","unstructured":"Hunter H, Quaife R. A 48,XYYY male: A somatic and psychiatric description. J Med Genet. 1973; 10(1):80\u201383.","DOI":"10.1136\/jmg.10.1.80"},{"key":"2026042716342730652_j_bjmg-2021-0029_ref_006","doi-asserted-by":"crossref","unstructured":"Townes P, Ziegler N, Lenhard L. A patient with 48 chromosomes (XYYY). The Lancet. 1965; 285: 1041\u20131043.","DOI":"10.1016\/S0140-6736(65)91315-2"},{"key":"2026042716342730652_j_bjmg-2021-0029_ref_007","doi-asserted-by":"crossref","unstructured":"Cox D., and Berry C. A patient with 45XO-48XYYY mosaicism. J. Med. Genet. 1967; 4: 132.","DOI":"10.1136\/jmg.4.2.132"},{"key":"2026042716342730652_j_bjmg-2021-0029_ref_008","unstructured":"Sele B., Bachelot Y, Richard J, Muller J, Jalbert P, and Berthet J. 48,XYYY males. Apropos of a case of 46,XX\/47,XYY\/48,XYYY mosaicism. Pediatrie. 1975; 30: 601."},{"key":"2026042716342730652_j_bjmg-2021-0029_ref_009","unstructured":"Gigliani F, Gabellini P, Marcucci L, Petrinelli P, Antonelli A. Peculiar mosaicism 47,XYY\/48,XYYY\/49,XYYYY in man. Journal de Genetique Humaine. 1980; 28: 47."},{"key":"2026042716342730652_j_bjmg-2021-0029_ref_010","doi-asserted-by":"crossref","unstructured":"Hori N, Kato T, Sugimura Y, Tajima K, Tochigi H, Kawamura J. A male subject with 3 Y chromosomes (48,XYYY): a case report. The Journal of Urology. 1988; 139: 1059\u20131061.","DOI":"10.1016\/S0022-5347(17)42772-8"},{"key":"2026042716342730652_j_bjmg-2021-0029_ref_011","doi-asserted-by":"crossref","unstructured":"Bryke CR, Mahoney MJ, Yang-Feng TL. Antenatal diagnosis of 45,X\/48,XYYY. Am. J. Med. Genet. 1989; A 34: 207\u2013210.","DOI":"10.1002\/ajmg.1320340215"},{"key":"2026042716342730652_j_bjmg-2021-0029_ref_012","unstructured":"Mazauric-St\u00fcker M, Kordt G, Brodersen D. Y aneuploidy: a further case of a male patient with a 48,XYYY karyotype and literature review. Ann. Genet. 1991; 35: 237\u201340."},{"key":"2026042716342730652_j_bjmg-2021-0029_ref_013","unstructured":"Teyssier M, Pousset G. 46,XY\/48,XYYY mosaicism case report and review of the literature. Genetic Counseling (Geneva, Switzerland). 1993; 5: 357\u2013361."},{"key":"2026042716342730652_j_bjmg-2021-0029_ref_014","unstructured":"Stein A, Heilbronner H, Jungmann J. Sex chromosome aberration with the 48,XYYY karyotype. 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Triple-Y syndrome following ICSI treatment in a couple with normal chromosomes Case report. Hum. Reprod. 2002; 17: 2560\u20132563.","DOI":"10.1093\/humrep\/17.10.2560"},{"key":"2026042716342730652_j_bjmg-2021-0029_ref_018","doi-asserted-by":"crossref","unstructured":"Arash Salmaninejad M and Sakhinia E. Rare 48,XYYY syndrome: case report and review of the literature Clin Case Rep. 2018; 6 (1): 179\u2013184.","DOI":"10.1002\/ccr3.1311"},{"key":"2026042716342730652_j_bjmg-2021-0029_ref_019","unstructured":"Z Kinder Jugendpsychiatr. Sex chromosome aberration with 48XYYY Karyotype: A case report of the phenotype of a rare sex chromosome aneuploidy, Case reports. 1994; 22(2): 130\u20134"},{"key":"2026042716342730652_j_bjmg-2021-0029_ref_020","doi-asserted-by":"crossref","unstructured":"Ridler MAC. An adult male with XYYY sex chromosomes. 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