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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 18q221 (Horn et al, 2002).

  • Same entry as in 21p112 (Palmer et al, 1995).

  • Same entry as in 21p130 (Weise et al, 2004).

  • Cerretini R, Luccerini V, Stivel M, Ba+¦ares V, Aranda I, Alba L, Pivetta O, Slavutsky I.: Tetrasomy 21pter-q22.1: molecular, cytogenetic, and clinical findings. Clin. Genet. 55:283-286, 1999. [PubMed: 10361993]
    47,XY,+psu dic(21;21)(q22.11;q22.11). Breakpoint between loci SOD1 and D21S404.
    The patient has MCA and was 10 years old.
    Aberration: IC,DI
    Chromosomal Aneuploidy: 21q+
    Index Terms: 21q tetrasomy
  • Same entry as in 01q440 (Courtens W et al, 1994).

  • Same entry as in 21q211 (Korenberg J R et al, 1992).

  • Vaglio A, Milunsky A, Quadrelli A, Huang X-L, Maher T, Mechoso B, Martinez S, Pagano S, Bellini S, Costabel M, Quadrelli R.: Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication. Genet. Test. and Mol. Biomark. 14: 57-65, 2010. [PubMed: 20143912]
    46,XX,add(21)(p12).ish der(21)t(21;21)(p12;q22.11)(wcp21q+,pcp21q++,D215259/D21S341/D21S342++)dn
    ''The diagnostic criteria for MR were not fulfilled'' at the age of 4 years and 10 months, however, she had a flat broad face, brachycephaly, and a flat nasal bridge, brushfield spots, epicanthal folds and upwardly slanted palpebral fissures.
    Aberration: Duplication
    Chromosomal Aneuploidy: 21q+
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105652
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