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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-.

Cover of Chromosomal Variation in Man

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

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  • Same entry as in 0Xp112 (Sharp et al, 2002).

  • Akiyama M, Kawame H, Ohashi H, Tohma T, Ohta H, Shishikura A, Miyata I, Usui N, Eto Y.: Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation. AJMG 99:111-114, 2001. [PubMed: 11241467]
    The 9 month old patient had MCA. He developed feeding difficulties and infantile spasms.
    Parents declined request of karyotyping.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Xq+
  • Quan F, Zonana J, Gunter K, Peterson K, Magenis R E, Popovich B W.: An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene. AJHG 56:1042-1051, 1995. [PMC free article: PMC1801461] [PubMed: 7726157]
    Proband RK, originally referred at 4 9/12 years of age for evaluation of moderate mental retardation (IQ 50) and obesity.
    46,der del(X)(q26.3q27.3)mat,Y.
    Mother was unaffected by fragile X syndrome.
    Aberration: ID,FS
    MIM#: 309550
    Chromosomal Aneuploidy: Xq-
    Index Terms: FMR1
    Negative band
  • Same entry as in 0Xp2231 (Schorderet D F et al, 1991).

  • Vasquez A I, Rivera H, Bobadilla L, Crolla J A.: A familial Xp+ chromosome, dup (Xq26.3->qter). J. Med. Genet. 32:891-893, 1995. [PMC free article: PMC1051743] [PubMed: 8592335]
    A three-generation family with individuals I-2, II-1,II-3, II-6, III-3 and III-4:
    46,X or Y,rea(X)(Xqter->Xp22.3::Xq26.3->Xqter).
    The abnormal phenotype included short stature and developmental delay.
    Aberration: Duplication
    Chromosomal Aneuploidy: Xq+
    Negative band
  • Same entry as in 0Xp223 (Verloes et al, 1995).

  • Same entry as in 0Xq211 (Woodward et al, 2002).

  • 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 82, B3421/94=46,X,t(X;10)(q26.3;q23.3).,Case 83, B326/94=46,X,t(X;10)(q26.3;q23.3)mat.
    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. 19:46,X,dup(X)(q26.3q27.2)
    The patient had a normal phenotype.
    Aberration: Duplication
    Chromosomal Aneuploidy: Xq+
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105443
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