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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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  • Bardoni B, Floridia G, Guioli S, Peverali G, Anichini C, Cisternino M, Casalone R, Danesino C, Fraccaro M, Zuffardi O, Camerino G: Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq. Hum. Genet. 91:333-338, 1993. [PubMed: 8099057]
    Nine cases were reported. Case 8 (Patient RR):
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Xp+
    Positive band
  • Ellison K A, Roth E J, McCabe E R B, Chinault A C, Zoghbi H Y: Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome. AJMG 47:1124-1134, 1993. [PubMed: 8291533]
    Zoghbi H Y, Ledbetter D H, Schultz R, Percy A K, Glaze D G: "A de novo X;3 translocation in Rett syndrome." AJMG 35:148-151, 1990. [PubMed: 2301468]
    Patient TH was 36 months old.
    46,X,t(X;3)(Xqter->Xp22.11::3q13.31->3qter;,3pter->3q13.31::Xp22.11->Xpter)de novo.
    The breakpoint maps between the distal end of the DMD gene and the DXS28 (C7) locus and the region is in a 170-kb YAC clone.
    Aberration: Reciprocal translocation
    MIM#: 312750
    Index Terms: Rett syndrome
    Positive band
  • Feldman B, Kramer R L, Ebrahim S A D, Wolff D J, Evans M I.: Prenatal evaluation of a de novo X;9 translocation. AJMG 85:476-478, 1999. [PubMed: 10405445]
    Aberration: Simple translocation
    MIM#: 310200
  • Freedenberg D L, Gane L W, Richards C S, Lampe M, Hills J, O''Connor R, Manchester D, Taylor A, Tassone F, Hulseberg D, Hagerman R J, Patil S R.: Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development. AJMG 85:197-201, 1999. [PubMed: 10398226]
    Patient S was 19 years old and was evaluated for developmental delays.
    Aberration: DI,FS
  • Fryns J P, Kleczkowska A, Debucquoy P, van den Berghe H: Fertility and X-chromosome rearrangements: isodicentric X-chromosome formation in the mother and Xp deletion in her daughter. Clin. Genet. 34:321-324, 1988. [PubMed: 3229000]
    Rivera H: An idic(X) leads to a del(X) or vice versa? Clin. Genet. 35:390-391, 1989. [PubMed: 2758691]
    mos45,X/46,X,del(X)(pter->p21.3)/,46,X,idic(X)(qter->p21.3::p21.3 ->qter).,46,X,del(X)(qter->p21.3:).
    The infant had short neck, broad thorax, double collecting system of the right kidney.,Mother had some dysmorphic features and had initial infertility problems.
    Aberration: TD,DI,IC
    Positive band
  • Gilgenkrantz S, Teboul M: "Features of Turner''s and DiGeorge''s syndromes with X;22 translocation." J. Med. Genet. 27:791, 1990. [PMC free article: PMC1017287] [PubMed: 2095774]
    Pinto M R, Pinto Leite R, Areias A: "Features of Turner''s and DiGeorge''s syndromes in a child with an X;22 translocation." J. Med. Genet. 26:778-780, 1989. [PMC free article: PMC1015761] [PubMed: 2614798]
    45,X,-X,-22,+t(X;22)(Xqter->Xp21.3::21q11.2->21qter)de novo.
    Aberration: Simple translocation
    MIM#: 188400
    Positive band
  • Mascarello J T, Hubbard V: Routine use of methods for improved G-band resolution in a population of patients with malformations and developmental delay. AJMG 38:37-42, 1991. [PubMed: 2012130]
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: Xp-
    Index Terms: High resolution G-banding
    Positive band
  • Tachdjian G, Perreaux F, Aboura A, Chevalier P, Portnoi M-F, Esteva B, Trioche P, Labrune P.: Molecular cytogenetic analysis of a Xp21.3-pter deletion in a family with normal and short stature. Clin. Genet. 61:163-165, 2002. [PubMed: 11940094]
    The mother and 3 out of 4 daughters had the same karyotype. The girls were put on groth hormone therapy with significant results.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xp-
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106530


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