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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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  • 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.
    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.
    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
  • Same entry as in 0Xp112 (Callen D F et al, 1987).

  • Same entry as in 0Xp220 (Couzin et al, 1987).

  • Same entry as in 0Xp220 (Daly et al, 1977).

  • 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.
    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]
    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
  • Same entry as in 45,X (Lange et al, 1993).

  • Same entry as in 11p100 (Lebo et al, 1982).

  • Same entry as in 0Xp220 (Maeda et al, 1979).

  • Same entry as in 0Xp113 (Nielsen et al, 1982).

  • Same entry as in 0Xp110 (Robson L et al, 1994).

  • 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
  • Same entry as in 11p130 (Silberstein and Shows, 1982).

  • 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]
    A good summary of 20 previously reported X-autosome translocations can be found in this report.
    Aberration: Simple translocation
    Variable band
  • Same entry as in 0Xp110 (van den Ouweland A M W et al, 1994).

  • 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
  • Same entry as in 0Xp220 (Watt, 1986).

  • Same entry as in 17p110 (Wiktor A et al, 1993).

  • 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.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 10q-,Xp-
    Variable band
  • Same entry as in 0X0000 (Yanagisawa, 1973).

Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106367
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