48,XXXY

Publication Details

  • Farge P, Dallaire L, Albert G, Melancon S B, Potier M, Leboeuf G: Oral and dental development in X chromosome aneuploidy. Clin. Genet. 27:122-126, 1985. [PubMed: 3978846]
    Case 4.

  • Ferguson-Smith M A, Johnston A W, Handmaker S D: Primary amentia and micro-orchidism associated with an XXXY sex-chromosome constitution. Lancet 2:126-128, 1960. [PubMed: 13822249]
    Index Terms: Amentia ... primary,Micro-orchidism

  • Ferrier P E, Ferrier S A, Pescia G: The XXXY Klinefelter syndrome in childhood. AJDC 127:104-105, 1974. [PubMed: 4809784]
    The authors have attempted to delineate the phenotype of 48,XXXY males with an objective of diagnosing the condition before puberty.
    Index Terms: Klinefelter syndrome

  • Fuse H, Shiseki Y, Sumiya H, Shimazaki J, Takahara M: Klinefelter''s syndrome with prepenile scrotum. Urology 40:438-440, 1992. [PubMed: 1441042]
    Case 1.
    Index Terms: Prepenile scrotum

  • Jansen J, Hansen E, Hobolth N, Jacobsen P, Mikkelsen M: 48,XXXY Klinefelter syndrome and nail-patella syndrome in the same child. Clin. Genet. 9:163-168, 1976. [PubMed: 1248175]
    Case J.N. (000572) in this report.
    The occurrence of these two rare conditions in a patient is believed to be fortuitous.
    MIM#: 161200
    Index Terms: Klinefelter syndrome,Nail-Patella syndrome

  • Kardon N B, Beratis N G, Hsu L Y F, Moloshok R E, Hirschhorn K: 47,XXY/48,XXXY/49,XXXXY mosaicism in a 4-year-old child. AJDC 122:160-162, 1971. [PubMed: 5564159]
    Patient 190466 in this report.
    Patient with small penis, small firm testes and delayed speech is described.
    Index Terms: Language deficit ... delayed,Penis ... hypoplastic (microphallus),Testes ... hypoplasia (tic) (small)

  • Leipoldt M, Eiben B, Krause W, Engel W: Nekrozoospermia in mosaic Klinefelter''s syndrome. Andrologia 19:175-177, 1987. [PubMed: 3688486]
    Blood:mos46,XY(14.6%)/46,XX(2.3%)/47,XXY(77.7%)/48,XXXY(5.4%).
    The 34 year old was referred because of infertility.
    Index Terms: Infertility

  • Linden M G, Bender B G, Robinson A.: Sex chromosome tetrasomy and pentasomy. Pediatrics 96:672-682, 1995. [PubMed: 7567329]
    Case 6: J.K.
    J.K. is now 19 years old with an IQ of 79. At the age of 3 he was evaluated because of hypospadias, penile chordee, bifid scrotum, and cryptorchidism.

  • Lorda-Sanchez I, Binkert F, Hinkel K G, Moser H, Rosenkranz W, Macchler M, Schinzel A: Uniparental origin of sex chromosome polysomies. Hum. Hered. 42:193-197, 1992. [PubMed: 1512000]
    One case where the extra X chromsomes were maternally derived.

  • Medina C, Zuniga G, Ramirez G, Rivera H, Franco-Gamboa E, Barros-Nunez P, Vaca G: Paternal non-disjunction evidenced by G6PD electrophoretic phenotypes in a 48,XXXY patient. Ann. Genet. 37:37-38, 1994. [PubMed: 8010713]

  • Simpson J L, Morillo-Cucci G, Horwith M, Stiefel F H, Feldman F, German J: Abnormalities of human sex chromosomes. VI. Monozygotic twins with the complement 48,XXXY. Humangenetik 21:301-308, 1974. [PubMed: 4857900]

  • Vormittag W, Weninger M: XXXY Klinefelter''s syndrome. Humangenetik 15:327-333, 1972. [PubMed: 4634449]
    Index Terms: Klinefelter syndrome

  • Welch M J, Sparkes R S: An XXXY boy with X/XY half-sister. Clin. Genet. 19:181-187, 1981. [PubMed: 7273461]
    Patient J.H. was 13 years old and had chronic pulmonary problems.