0Xq110

0Xq11

Publication Details

  • Biemont M C, Laurent C, Couturier J, Dutrillaux B: Chronology of sexual chromosome bands replication from lymphocytes of normal and abnormal subjects. Ann. Genet. 21:133-141, 1978. [PubMed: 315188]
    Case No. 9 in this report.
    del(X)(q11).
    Aberration: Terminal deletion
    Variable band

  • Bienvenu T, Der-Sarkissian H, Billuart P, Tissot M, Des Portes V, Bruls T, Chabrolle J P, Chauveau P, Cherry M, Kahn A, Cohen D, Beldjord C, Chelly J, Cherif D.: Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation. Europ. J. Hum. Genet. 5:105-109, 1997. [PubMed: 9195162]
    Patient J.P. was 12 years old.
    46,X,t(X;12)(q11;q15)
    Aberration: Simple translocation
    No band

  • Briault S, Odent S, Lucas J, Le Merrer M, Turleau C, Munnich A, Moraine C.: Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome. AJMG 86:112-114, 1999. [PubMed: 10449643]
    Veltman J A, Yntema H G, Lugtenberg D, Arts H, Briault S, Huys E H L P G, Osoegawa K, de Jong P, Brunner H G, Geurts van Kessel A, van Bokhoven H, Schoenmakers E F P M.: High resolution profiling of X chromosomeal aberrations by array comparative genomic hybridisation. J. Med. Genet. 41:425-432, 2004. [PMC free article: PMC1735810] [PubMed: 15173227]
    Aberration: IP,DU
    MIM#: 305450
    Chromosomal Aneuploidy: Xq+
    Index Terms: Familial FG syndrome

  • Disteche C M, Swisshelm K, Forbes S, Pagon R A: X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes. Hum. Genet. 66:71-76, 1984. [PubMed: 6698557]
    Wolff D J, Schwartz S, Carrel L.: Molecular determination of X inactivation pattern correlates with phenotype in women with a structurally abnormal X chromosome. Genet. in Med. 2:136-141, 2000. [PubMed: 11397327]
    Case 2.
    46,X,t(X;17)(q11;q11).
    The patient had an abnormal phenotype with dysmorphia and MR.
    The abnormal X was late replicating 20-40%.
    Aberration: Simple translocation
    Variable band

  • Hall L L, Clemson C M, Byron M, Wydner K, Lawrence J B.: Unbalanced X;autosome translocations provide evidence for sequence specificity in the association of XIST RNA with chromatin. Hum. Mol. Genet. 11:3157-3165, 2002. [PubMed: 12444100]
    Leisti J, Kaback M M, Rimoin D L: The Turner phenotype associated with unbalanced X/autosome translocation. BD-OAS XI(No. 5):315-317, 1975. [PubMed: 1218231]
    Leisti J, Kaback M M, Rimoin D L: Human X-autosome translocations: Differential inactivation of the X chromosome in a kindred with an X-9 translocation. AJHG 27:441-453, 1975. [PMC free article: PMC1762798] [PubMed: 1155455]
    46,X,rcp(X;9)(q11;q32).
    Case MH (620082) in this report.
    46,X,-X,+der(9)rcp(X;9)(q11;q32)mat.,46,X,-X,+der(9)rcp(X;9)(9pter->9q32::Xq11->Xqter)mat.,Data on previously reported cases of X-autosome translocations can be found in this paper. In the mother''s cells the normal X is late replicating, while in the daughter''s cells almost the entire der(9) is late replicating. The family had been previously reported as a possible t(6;9) translocation by Rohde and Catz (1964).
    Aberration: Reciprocal translocation
    Index Terms: Turner syndrome
    Variable band

  • Ruthner U, Golob E: Identification of a large submetacentric X chromosome as pericentric inversion of an isochromosome of the long arm. Humangenetik 22:171-175, 1974. [PubMed: 4135786]
    46,X,invi(Xq)(q11q11) or 46,X,invi(Xq)(IXqter -> IXq1::IIXq11 -> IXq1::IIXq11 -> IIXqter).&The isochromosome consists of two long arms. They are identified as IXq and IIXq. Nomenclature of break points is not clear as per figure IX.
    Aberration: IC,PI
    Variable band

  • Summitt R L, Martens P R, Wilroy R S, Jr: X-autosome translocation in normal mother and effectively 21-monosomic daughter. J. Ped. 84:539-546, 1974. [PubMed: 4834247]
    46,XX,-21,+der(21),t(X;21)(q11;p11?)mat.
    46,X,t(X;21)(q11;p11?).,46,X,t(X;21)(Xpter->Xq11::21p11?->21pter;,21qter->21p11?::Xq11->Xqter).
    A good summary of 20 previously reported X-autosome translocations can be found in this report.
    Aberration: Simple translocation
    Variable 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 P48,B2206/96
    46,X,t(X;13)(q11;q10)de novo
    Aberration: Simple translocation
    MIM#: 146150
    No band

  • Williams J, Dear P R F: "An unbalanced t(X;10)mat translocation in a child with congenital abnormalities." J. Med. Genet. 24:633, 1987. [PMC free article: PMC1050295] [PubMed: 3681911]
    Patient was 2 years old.
    46,X,-X,+der(10),t(X;10)(10pter->10q25::Xq11->Xqter)mat.,Sib:46,X,-X,-10,+der(X),+der(10),t(X;10)(Xpter->Xq11::,10q25->10qter;10pter->10q25::Xq11->Xqter)mat.,Mother:46,X,t(X;10)(Xpter->Xq11::10q25->10qter;10pter->10q25::Xq11->Xqter).
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 10q-,Xp-
    Variable band