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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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11q134

11q13.4
  • Cunniff C, Jones K L, Benirschke K: Ovarian dysgenesis in individuals with chromosomal abnormalities Hum. Genet. 86:552-556, 1991. [PubMed: 2026420]
    46,XX,der(11)t(11;13)(q13.4;p11).
    Associated malformations noted were renal hypoplasia, bicornuate uterus, reduction defect left leg.
    Aberration: Simple translocation
    Positive band
  • Wincent J, Schoumans J, Anderlid B M.: De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay. Europ. J. Med. Genet. 53: 50-53, 2010. [PubMed: 19857611]
    46,XY,del(11)(q13.4q14.3)dn
    Patient was 3 1/2 years old with a hyperactive behavior and sleeping disorder..
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 11q-
    Index Terms: Ptosis
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106934

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