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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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09p221

9p22.1
  • Same entry as in 09p131 (Bonaglia et al, 2002).

  • Chabchoub E, Rodriguez L, Galan E, Mansilla E, Martinez-Fernandez M L, Martinez-Frias M L, Fryns J-P, Vermeesch J R.: Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation. J. Med. Genet. 44: 250-256, 2007. [PMC free article: PMC2598050] [PubMed: 17172463]
    46,XX,del(9)(p22.1)[21]/46,XX,der(9)t(5;9)(p13.3;p22.1)[18]-G-banding.,46,XX,del(9)(p22.1).arr cgh 9pterp22.1(GS1-77L23->RP11-269B5)x1.ish del(9)(p22.1)(48M17-,503K6-,513M16+)dn[55]/46,XX,der(9)t(5;9)(p13.3;p22.1).arr cgh 5pterp13.3(Rp11-415K6->RP11-53L13)x3, 9pterp22.1(GS-77L23->RP11-269B5)x1, 9p22.1p13.3(RP11-296P7->RP11-284F1)x3.ish der(9)t(5;9)(p13.3;p22.1)del(9)(p22.1)dup(9)(p13.3->p22.1::p22.1-qter)(53L13++,15G6+;48M17-,503K6-,513M16++,48L13++)dn[45].
    The 14 year old has several dysmorphic features associated with developmental retardation.
    Normal parental karyotypes.
    Aberration: ID,DU,CT
    Chromosomal Aneuploidy: 9p-;9p+
    Index Terms: CGH
  • Same entry as in 03p2133 (Fryns et al, 1986).

Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106715
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