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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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12q14.4

  • Mari F, Hermanns P, Giovannucci-Uzielli M L, Galluzzi F, Scott D, Lee B, Renieri A, Unger S, Zabel B, Superti-Furga A.: Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis. Europ. J. Hum. Genet. 17: 1141-1147, 2009. [PMC free article: PMC2986596] [PubMed: 19277063]
    46,XY,insertion in 1q43 of bands 4p11-p15.31, 1.8 Mb deletion 12q14.3. Proximal breakpoint mapped to 12q14.3 and distal breakpoint in 12q15.
    The 18 month old was evaluated for severe proportionate short stature.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 12q-
    Index Terms: Osteopoikilosis, primordial dwarfism
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106371

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