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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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12q300

12q30
  • Niyazov D M, Nawaz Z, Justice A N, Toriello H V, Martin C L, Adam M P.: Genotype/phenotype correlations in two patients with 12q subtelomere deletions. AJMG Part A: 2700-2705, 2007. [PubMed: 17937441]
    Patient 1 has 1.6 Mb deletion.,Patient 2 has 4.5 Mb deletion.
    Patient 1 was 8 years old with borderline mild MR and no significant dysmorphic facial features.,Patient 2 was 12 years old also with mild MR and mild dysmorphic features.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 12q-
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106316
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