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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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12p111

12p11.1
  • Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bertels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner R-D, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T.: Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum. Genet. DOI=10.1007/s00439-003-1016-3;114:51-67, 2003. [PubMed: 13680362]
    35 SMCs derived from all the human chromosomes, except 6, were studied.
    In nine cases without an aberrant phenotype, neither partial proximal trisomies nor UPD could be detected. Small proximal trisomies of 1p, 1q, 2p, 6p, 6q, 7q, 9p, and 12q seem to lead to clinical manifestations, whereas partial proximal trisomies of 2q, 3p, 3q, 5q, 7p, 8p, 17p, and 18p may not be associated with significant clinical symptoms.
    Case 17:
    Amniocytes:,Short term culture=47,XX,+mar[15].SubcenM-FISH i(12)(pter->q10::q10->pter)de novo.,Long term culture=47,XX,+mar[3]/46,XX[37].
    Enhanced maternal age; increased nuchal translucency dtected in ultrasound, pregnancy terminated because of Pallister-Killian syndrome.
    Case 18:
    Paripheral blood=47,XY,+r[21]/46,XY[11].cenM-FISHmin(12).SubcenM-FISH 12q+;cep 12+min(12)(:p11.1->q12)de novo.
    Psychomotor retardation; craniofacial dysmorphies.
    Index Terms: Small supernumerary marker chromosomes (SMC)
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105644
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