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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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13q332

13q33.2
  • Luo J, Balkin N, stewart J F, Sarwark J F, Charrow J, Nye J S.: Neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34. AJMG 91:227-230, 2000. [PubMed: 10756348]
    46,XY,del(13)(q33.2->qter).
    The index patient was 13 years old.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 13q-
    Index Terms: Neural tube defects
    No band
  • Luquet I, Favre B, Nadal N, Madinier N, Khau Van Kien Ph, Huet F, Nivelon-Chevallier A, Mugneret F.: Two cases of terminal deletion of chromosome 13: clinical features, conventional and molecular cytogenetic analysis. Ann. Genet. 42:33-39, 1999. [PubMed: 10214505]
    Case 1, C.G.: 46,XY,del(13)(q33.2)de novo.,Case 2, B.M.: 46,XX,del(13)(q33.2)de novo.
    Both patients were studied because of craniofacial anomalies and psychomotor retardation. They were 37 and 26 months old, respectively.
    Aberration: Terminal deletion
    MIM#: 227500
    Chromosomal Aneuploidy: 13q-
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105818
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