0Xp1122

0Xp11.22

Publication Details

  • Artifoni L, Baccichetti C, Piovan E, Anglani F, Lenzini E, Goppion G, Tenconi R: Replication patterns of human X isochromosomes by high-resolution banding. Cytogenet. Cell Genet. 36:649-651, 1983. [PubMed: 6661931]
    45,X/46,X,idic(X)(p11.22).
    Aberration: Isochromosome
    Positive band

  • Callen D F, Eyre H J, Dolman G, Garry-Battersby M B, McCreanor J R, Valeba A, McGill J J.: Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation. J. Med. Genet. 32:113-116, 1995. [PMC free article: PMC1050231] [PubMed: 7760319]
    mos45,X/46,X,r(X).
    At age 11 years she was evaluated for Turner stigmata.
    Two patients are discussed.
    47,XY,+r(X).
    At 2 1/2 years of age this male patient was evaluated because of global developmental delay.
    Aberration: Ring chromosome
    Index Terms: Turner syndrome ... X inactivation
    Positive band

  • Journel H, Melki J, Turleau C, Munnich A, de Grouchy J: Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome X. AJMG 35:142-147, 1990. [PubMed: 2301467]
    46,X,t(X;22)(p11.22;p11).
    The Rett syndrome was diagnosed in a patient whose mother and sister also were carriers for the same translocation.
    It is suggested that the localization of a RS related gene to Xp is likely.
    Aberration: Simple translocation
    MIM#: 312750
    Positive band

  • Nowaczyk M J M, Ramsay J A, Mohide P, Tomkins D J.: Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism. AJMG 77:306-309, 1998. [PubMed: 9600741]
    mos45,X[14]/46,X,r(X)(p11.22q12)[7]
    The 19 week old fetus had anencephaly and diaphragmatic hernia.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: Xp-; Xq-