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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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  • Abeliovich D, Dagan J, Kimchi-Sarfaty C, Zlotogora J.: Paracentric inversion X(q21.2q24) associated with mental retardation in males and normal ovarian function in females. AJMG 55:359-362, 1995. [PubMed: 7726237]
    Family G:
    46,X ,inv(X)(q21.2q24)and Y,inv(X)(q21.2q24).
    There was deafness, males were mentally retarded, and the females were normal with normal ovarian function in this family..
    Aberration: Inversion paracentric
    Negative band
  • Cremers F M P, van de Pol D, Wieringa B, Collins F S, Sankila E M, Siu V M, Flintoff W F, Brunsmann F, Blonden L A J, Ropers H H: Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia. PNAS 86:7510-7514, 1989. [PMC free article: PMC298094] [PubMed: 2798422]
    Cremers F P M, van de Pol D J R, van Kerkhoff L P M, Wieringa B, Ropers H H: Cloning of a gene that is rearranged in patients with choroideraemia. Nature 347:674-677, 1990. [PubMed: 2215697]
    Merry D E, Janne P A, Landers J E, Lewis R A, Nussbaum R L: Isolation of a candidate gene for choroideremia. PNAS 89:2135-2139, 1992. [PMC free article: PMC48611] [PubMed: 1549574]
    Siu V M, Gonder J R, Jung J H, Sergovich F R, Flintoff W F: Choroideremia associated with an X-autosomal translocation. Hum. Genet. 84:459-464, 1990. [PubMed: 2323779]
    Patient had mild choroideremia.
    Aberration: Reciprocal translocation
    MIM#: 303100
    Negative band
  • Juberg R C, Hayes M L: "Critical region hypothesis: primary amenorrhea in an 18-year-old woman with a complex translocation (X;2;8)." AJMG(Suppl.) 3:145-150, 1987. [PubMed: 3130848]
    46,X,t(X;2;8)(Xpter -> Xq21.2::2q14 -> 2qter;2pter -> 2q14::8p11 -> 8pter;8qter -> 8p11::Xq21.2 -> Xqter).
    Aberration: Complex translocation
    Negative band
  • Katayama K P, Valencia A L, Wise L, Stehlik E: Pregnancy with X-autosome translocation. Fert. Ster. 55:438-439, 1991. [PubMed: 1846826]
    The mother had some infertility and hypergonadotropic amenorrhea. The normal X chromosome was inactive and the translocation chromosomes were active.
    I have wondered whether this case is from the family reported earlier by Pallister and Ruddle - KOP 1 and KOP 2.
    Aberration: Reciprocal translocation
    Index Terms: X-autosome translocation,Infertility
    Negative band
  • Merry D E, Lesko J G, Siu V, Flintoff W F, Collins F, Lewis R A, Nussbaum R L: "DXS165 detects a translocation breakpoint in a woman with choroideremia and a denovo X;13 translocation." Genomics 6:609-615, 1990. [PubMed: 2341150]
    Merry D E, Yadvish K N, Landers J E, Lewis R A, Nussbaum R L: Isolation of a candidate gene for the human chorioretinal dystrophy choroideremia. AJHG 49 (Suppl.):413, 1991.
    Aberration: Simple translocation
    MIM#: 303100
    Negative band
  • Schwartz M, Yang H M, Niebuhr E, Rosenberg T, Page D C: Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia. Hum. Genet. 78:156-160, 1988. [PubMed: 3422216]
    Family 2.
    del(X)(q21.2 -> q21.31).
    Aberration: Interstitial deletion
    MIM#: 303100
    Negative 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 P61,91B/1169=46,X,t(X;9)(q21.2;p22.3).
    Aberration: Simple translocation
    No band
  • 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 No. 20:46,X,dup(X)(q21.2q22.1)
    The patient had an abnormal phenotype with dysmorphia and MR.
    Aberration: Duplication
    Chromosomal Aneuploidy: Xq+
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105515


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