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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 18p111, 18q100 (Wang et al, 1997).
  • Berend S A, Bejjani B A, McCaskill C, Shaffer L G.: Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations. AJMG DOI=10.1002/ajmg.10566; 111:362-365, 2002. [PubMed: 12210293]
    Berend S A, Canun S, McCaskill C, Page S L, Shaffer L G.: Molecular analysis of mosaicism for two different de novo acrocentric rearrangements demonstrates diversity in Robertsonian translocation formation. AJMG 80:252-259, 1998. [PubMed: 9843048]
    The proposita was referred at age of 2 months because of DS born to young parents.
    The 14q21q consisted of a maternally derived 14 and a paternally derived 21 indicating a postzygotic formation. The i(21q) was of maternal origin.
    Aberration: TR,IC,UPD
  • Nagarsheth N P, Mootabar H.: Prenatal diagnosis of mosaic tetrasomy 21q confirmed by fluorescence in situ hybridization. Clin. Genet. 51:260-263, 1997. [PubMed: 9184249]
    mos47,XY,+mar.ish i(21)(q10)/46,XY.
    The phenotype is suggestive of Down syndrome.
    The 38 yo mother continued the pregnancy.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 21q+
    No band
  • Verschraegen-Spae M R, Quack B, Rousseaux S, Pison H, Messiaen L, De Paepe A, Lespinasse J.: Application of fluorescence in situ hybridization to the identification of different marker chromosomes. Ann. Genet. 41:5-10, 1998. [PubMed: 9599644]
    Patient Antoine S.:
    46,XY,t(21;21)(q10;q10)[25]/,47,XY,t(21;21)(q10;q10),+mar1(21?)[25].,Father=47,XY,+inv dup(15)(pter->q11::q11->pter).
    The patient had dysmorphic features simulating Down syndrome.
    DNA marker studies showed that the abnormal chromosome 21 were maternal in origin.
    Aberration: Robertsonian translocations
    Chromosomal Aneuploidy: 21q+
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106963


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