Open Access

Parental Origin and Cell Stage Errors in X-Chromosome Polysomy 49, XXXXY

Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 2006; 1: 42.10.1186/1750-1172-1-42Search in Google Scholar

Fraccaro M, Kaijser K, Lindsten J. A child with 49 chromosomes. Lancet 1960; 2(7156): 899-902.10.1016/S0140-6736(60)91963-2Search in Google Scholar

Jacobs PA, Strong JA. A case of human intersexuality having possible XXY sex-determining mechanism. Nature 1959; 183(4657): 164-167.Search in Google Scholar

Peet J, Weaver DD, Vance GH. 49, XXXXY: a distinct phenotype. Three new cases and review. J Med Genet 1988; 35(5): 420-424.10.1136/jmg.35.5.420Search in Google Scholar

Thompson MW, McInnes RR, Huntington WF, Eds. Thompson & Thompson Genetics in Medicine, 5 ed. Philadelphia: W.B. Saunders Company. 1991; 172-175.Search in Google Scholar

Hirschhorn K, Hirschhorn R, Fraccaro M, Book JA. Incidence of familial hyperlipemia. Science 1959; 129(3350): 716-717.10.1126/science.129.3350.716Search in Google Scholar

Demirhan O. Clinical findings and phenotype in a toddler with 48, XXYY syndrome. Am J of Med Genet 2003; 119A(3): 393-394.10.1002/ajmg.a.20015Search in Google Scholar

Griffin JE, Wilson JD. Disorders of the testes and male reproductive tract. In: Wilson JD, Foster DW, Eds. Williams Text Book of Endocrinology. Philadelphia: W.B. Saunders Company. 1992; 884-884.Search in Google Scholar

Lia EN, Otero SAM, Ferraz M, Gonçalves LPV. Oral aspects of 49, XXXXY syndrome: a case report. J Dentist Childr 2007; 74(2): 136-139.Search in Google Scholar

Adinolfi M, Pertl B, Sherlock J. Rapid detection of aneuploidies by microsatellite and the quantitative fluorescent polymerase chain reaction. Prenat Diagn 1997; 17(13): 1299-1311.10.1002/(SICI)1097-0223(199712)17:13<1299::AID-PD297>3.0.CO;2-HSearch in Google Scholar

Diego-Alvarez D, Ramos-Corrales C, Garcia-Hoyos M, Bustamante-Aragones A, Cantalapiedra D, Diaz-Recasens J, Vallespin-Garcia E, Ayuso C, Lorda-Sanchez I. Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach. Hum Reprod 2006; 21(4): 958-966.10.1093/humrep/dei406Search in Google Scholar

Lamb NE, Freeman SB, Savage-Austin A, Pettay D, Taft L, Hersey J, Gu Y, Shen J, Saker D, May KM, Avramopoulos D, Petersen MB, Hallberg A, ikkelsen M, Hassold TJ, Sherman SL. Susceptible chiasmate configurations on chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nat Genet 1996; 14(4): 400-405.10.1038/ng1296-400Search in Google Scholar

Nicolaidis P, Petersen MB. Origin and mechanisms of nondisjunction in human autosomal trisomies. Hum Reprod 1998; 13(2): 313-319.10.1093/humrep/13.2.313Search in Google Scholar

Robinson WP, Bernasconi-Quadroni F, Lau A, McFadden DE. Frequency of meiotic trisomy depends on involved chromosome and mode of ascertainment. Am J Med Genet 1999; 84(1): 34-42.10.1002/(SICI)1096-8628(19990507)84:1<34::AID-AJMG8>3.0.CO;2-7Search in Google Scholar

Guzel AI, Demirhan O, Pazarbasi O, Ozgunen FT, Kocaturk-Sel S, Tastemir D. Detection of parental origin and cell stage errors of a double nondisjunction in a fetus by QF-PCR. Genet Test Molec Biomark 2009; 13(1): 73-77.10.1089/gtmb.2008.005419309277Search in Google Scholar

Celik A, Eraslan S, Gokgoz N, Ilgin H, Basaran S, Bokesoy I, Kayserili H, Yuksel-Apak M, Kirdar Betul. Identification of the parental origin of polysomy in two 49, XXXXY cases. Clinic Genet 1997; 51(6): 426-429.10.1111/j.1399-0004.1997.tb02504.x9237509Search in Google Scholar

Deng H-X, Abe K, Kondo I, Tsukahara M, Inagaki H, Hamada Isamu, Fukushima Yoshimitsu and Niikawa N. Parental origin and mechanism of formation of polysomy X: an XXXXX case and four XXXXY cases determined with RFLPs. Hum Genet 1986; 86(6): 541-544.Search in Google Scholar

Linden MG, Bender BG, Robinson A. Sex chromosome tetrasomy and pentasomy. Pediatrics 1995; 96(4, Pt. 1):672-682.10.1542/peds.96.4.672Search in Google Scholar

Sijmons RH, van Essen AJ, Visser JD, Iprenburg M, Nelck GF, Vos-Bender ML, de Jong B. Congenital knee dislocation in a 49, XXXXY boy. J Med Genet 1995; 32(4): 309-311.10.1136/jmg.32.4.30910503837643364Search in Google Scholar

Hayek A, Riccardi V, Atkins L, Hendren H. 49, XXXXY chromosomal anomaly in a neonate. J Med Genet 1971; 8(2): 220-221.10.1136/jmg.8.2.22014690095096544Search in Google Scholar

Jones KL. XXY syndrome, Klinefelter syndrome. In: Jones KL, Ed. Smith's Recognizable Patterns of Human Malformation, 5th ed. Philadelphia: W.B. Saunders. 1997; 72-77.Search in Google Scholar

Borghgraef M, Fryns JP, Van Den Berghe H. The 48, XXYY syndrome: follow-up data on clinical characteristics and psychological finding in 4 patients. Genet Counsel 1991; 2(2): 103-108.Search in Google Scholar

Garvey M, Mutton DE. Sex chromosome observations and speech development. Arch Dis Child 1973; 48(12): 937-941.10.1136/adc.48.12.93716486564765655Search in Google Scholar

Steward DA, Bailey JD, Netley CT, Rovet J, Park E. Growth and development of children with X and Y chromosome aneuploidy from infancy to pubertal age; the Toronto study. Birth Defects Orig Artic Ser 1982; 18(4): 99-154.Search in Google Scholar

ISSN:
1311-0160
Language:
English
Publication timeframe:
2 times per year
Journal Subjects:
Medicine, Basic Medical Science, other