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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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12p11205

12p11.205
  • Docherty Z, Seller M J: Acrocallosal syndrome and 12p. Ann. Genet. 36:136, 1993. [PubMed: 8215222]
    Rauch A, Trautmann U, Pfeiffer R A.: Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome". AJMG 63:243-249, 1996. [PubMed: 8723117]
    Case 1, 17116, previously published by Pfeiffer et al (1992).
    46,XX,inv dup(12)(qter->pter::pter->p11.21::pter).
    Patient ChD 900109.
    46,XX,inv dup(12)(qter -> p13.305::p13.305 -> p11.205::p13.305 -> pter)de novo.
    The 16 month old has typical features of acrocallosal syndrome including craniofacial dysmorphy, mental deficiency, convulsive disorder, agenesis of corpus callosum, preaxial polydactyly, hallux duplex of both feet, and diabetes insipidus.
    Docherty and Seller discuss the possibility of involvement of chromosome 7.
    Aberration: Inverted insertions within a chromosome
    MIM#: 200990
    Chromosomal Aneuploidy: 12p+
    Index Terms: Acrocallosal syndrome
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107161

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