0Xp100

0Xp10

Publication Details

  • Bajalica S, Bui T H, Koch J, Brondum-Nielsen K: Prenatal investigation of a 45,X/46,X,r(?) karyotype in amniocytes using fluorescence in situ hybridization with an X-centromeric probe. Prenat. Diag. 12:61-64, 1992. [PubMed: 1557312]
    mos45,X/46,X,r(X)(28%).
    The pregnancy was terminated and no autopsy was performed.
    Aberration: Ring chromosome
    No band

  • Bartsch O, Schwinger E: A simplified protocol for fluorescence in situ hybridization with repetitive DNA probes and its use in clinical cytogenetics. Clin. Genet. 40:47-56, 1991. [PubMed: 1884517]
    Case 4.
    46,X,der(X)(p1q1)/45,X.
    No band

  • Brandt C A, Hindkjaer J, Stromkjaer H, Pedersen S, Sunde L, Kolvraa S: Molecular cytogenetics: applications in clinical genetics. Europ. J. Obstet. Gynceol. 50:235-242, 1993. [PubMed: 8262301]
    Case 1:
    46,X,r(X)(small marker).
    Karyotyping was done by cvs.
    Case 2:
    46,X,r(X)(small marker).
    Patient was 5 years old with dwarfism and developmental delay.
    Aberration: Ring chromosome
    No band

  • Cooper C, Crolla J A, Laister C, Johnston D I, Cooke P: An investigation of ring and dicentric chromosomes found in three Turner''s syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes. J. Med. Genet. 28:6-9, 1991. [PMC free article: PMC1016740] [PubMed: 1999837]
    Case 1.
    mos45,X(16)/46,X,r(X)(8).
    Case 3.
    mos45,X(14)/46,X,r(X)(6).
    X and Y chromosome probes (pSV2X5 and Y190, Y75/79, and Y84) were used to identify the small ring chromosomes.
    Aberration: Ring chromosome
    No band

  • Grompe M, Rao N, Elder F F B, Caskey C T, Greenberg F: 45,X/46,X,+r(X) can have a distinct phenotype different from Ullrich-Turner syndrome. AJMG 42:39-43, 1992. [PubMed: 1339199]
    Patient Y.G.
    mos45,X/46,X,r(X).
    Patient died at the age of two years following a surgical mitral valvotomy. She had mental retardation, minor facial anomalies.
    It is hypothesized that there was no inactivation of the ring X chromosome.
    Aberration: Ring chromosome
    Index Terms: X inactivation
    No band

  • Guillen D R, Lowichik A, Schneider N R, Cohen D S, Garcia S, Zinn A R.: Prune-Belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST. AJMG 70:32-36, 1997. [PubMed: 9129738]
    Blood:mos45,X(7 cells)/46,X,r(X)(p1?q1?)(13 cells)
    The fetus had MCA including frontal bossing, massive abdominal distension, and distal left lower limb reduction.
    FISH studies (using the cosmid probe ICRFc100H0130) on cultured kidney cells showed only one XIST signal.
    Aberration: Ring chromosome
    MIM#: 100100
    Chromosomal Aneuploidy: Xp-&q-
    Index Terms: Prune-Belly syndrome

  • Guttenbach M, Kohler J, Schmid M: Cytogenetic and molecular characterization of a small ring chromosome in the complex karyotype of a girl with Turner syndrome. Hum. Genet. 87:680-684, 1991. [PubMed: 1937469]
    mos46,X,der(X)(25%)/47,X,der(X),+r(X).
    The patient was 8 years old with Turner syndrome characteristics.
    The DNA probe pXBR was used in identifying the abnormal X chromosomes.
    Aberration: ST,RI
    Index Terms: Abnormal X
    No band

  • Migeon B R, Ausems M, Giltay J, Hasley-Royster C, Kazi E, Lydon T J, Engelen J J M, Raymond G V.: Severe phenotypes associated with inactive ring X chromosomes. AJMG 93:52-57, 2000. [PubMed: 10861682]
    Migeon B R, Luo S, Jani M, Jeppesen P.: The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo inactivation. AJHG 55:497-504, 1994. [PMC free article: PMC1918382] [PubMed: 8079992]
    These small ring chromosomes do not undergo inactivation and because of the resulting disomy the severe phenotype results.
    Two unrelated patients, SD and JD, are presented in the 2000 report.
    46,X,r(X)(?p21->q21?)[22/43 cells]
    Aberration: Ring chromosome
    Index Terms: X inactivation
    No band

  • Tharapel S A, Wilroy R S, Jr, Keath A M, Rivas M L, Tharapel A T: Identification of the origin of ring/marker chromosomes in patients with Ullrich-Turner syndrome using X and Y specific alpha satellite DNA robes. AJMG 42:720-723, 1992. [PubMed: 1632446]
    6 patients were studied.
    mos45,X/46,X,r(X).
    FISH technique was used to identify the small chromosome as an X-derived, since it is important for management and counseling.
    Aberration: Ring chromosome
    Index Terms: FISH
    No band

  • Turner C, Dennis N R, Skuse D H, Jacobs P A.: Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype. Hum. Genet. DOI 10.1007/s004399900221;106:93-100, December 21, 1999;2000. [PubMed: 10982188]
    Cases KR, CRH, CL, GB2, RT, KW, and GB1.
    45,X/46,X,r(X)
    Aberration: Ring chromosome
    MIM#: 314670
    No band

  • Waters J J, Campbell P L, Crocker A J M, Campbell C M.: Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories. Hum. Genet. 108:318-327, 2001. [PubMed: 11379878]
    Case 45=46,X,t(X;9)(?p10;?q10).,Case P46=46,X,t(X;17)(p10;q10)de novo.,Case 47=46,X,t(X;19)(p10;q10).
    Aberration: Simple translocation
    No band