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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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  • Eckel H, Wimmer R, Volleth M, Jakubiczka S, Muschke P, Wieacker P.: Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p. AJMG Part A DOI=10.1002/ajmg.a.31237; 140A: 1219-1222, 2006. [PubMed: 16652358]
    46,XY,trp(12)(pter->p11.22::p11.22->p12.3::p12.3->qter).ish trp(12)(wcp12+, YAC951h06+, YAC952a06++, YAC896c07+++, YAC876c12+++, YAC894g01+++, YAC901d04+++, YAC963d10++,YAC924h12+).,Mother=46,XX,trp(12)(pter->p11.22::p11.22->p12.3::p12.3->qter)[6]/46,XX[44].
    The 4 year old was being evaluated because of MR, an abnormal voice, syndactyly of the second and third toes, craniofacial anomalies including macrocephaly, hypertelorism, epicanthal folds, a short nose with anteverted nsotrils, microdontia, and a broad protruding lower lip. Presently a 16 year old.,Mother was phenotypically normal.
    Aberration: TRP
    Chromosomal Aneuploidy: 12p+
    Index Terms: Triplication of 12p
  • Huang X-L, Isabel de Michelena M, Leon E, Maher T A, McClure R, Milunsky A.: Pallister-Killian syndrome: tetrasomy of 12pter->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome. Clin. Genet. 72: 434-440, 2007. [PubMed: 17894838]
    47,XY,+mar.ish der(12)(pter->p11.22::p11.22[neocen]->pter)(AHC-,CEP12-,PCP12++,RO11-90K13+)[18]/46,XY[32]de novo.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pallister-Killina syndrome (PKS)
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106890


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