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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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06p223

6p22.3
  • Al Husain M, Zaki O K.: A survey of 1,000 cases referred for cytogenetic study to King Khalid University hospital, Saudi Arabia. Hum. Hered. 49:208-214, 1999. [PubMed: 10436383]
    Case referred because of suspicion of Down syndrome.
    47,XY,+21,t(6;10)(p22.3;q24).
    Aberration: Reciprocal translocation
  • Bremer A, Schoumans J, Nordenskjold M, Anderlid B-M, Giacobini MB.: An interstitial deletion of 7.1 Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities. Europ. J. Med. Genet. 52: 358-362, 2009. [PubMed: 19576304]
    The patient was 4 years old.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6p-
  • Bremer A, Schoumans J, Nordenskjold M, Anderlid B-M, Glacobini MB.: An interstitial deletion of 7.1 Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities. Europ. J. Med. Genet. 52: 3580362, 2009. [PubMed: 19576304]
    Wincent J, Anderlid B-M, Lagerberg M, Nordenskjold M, Schoumans J.: High-resolution molecular karyotyping in patients with developmental delay and/or mutliple congenital anomalies in a clinical setting. Clin. Genet. DOI=10.1111/j.1399-0004.2010.01442.x, 2010. [PubMed: 20486943]
    46,XX,del(6)(p22.3)dn 7.1 mb.
    Patient was 4 years old with developmental delay and dysmorphic features including eye abnormalities, ear anomalies, short neck, and heart defects.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6p-
  • Moriarty A P, Kerr-Muir M G: Sclerocornea and interstitial deletion of the short arm of chromosome 6 - (46,XY del\6\\p22p24\). J. Pediat. Ophthal. Starbis. 29:177-179, 1992. [PubMed: 1432504]
    46,XY,del(6)(p22.3p24)de novo.
    Dysmorphic child evaluated at 9 months of age with bilateral peripheral sclerocornea.
    Aberration: Interstitial deletion
    MIM#: 181700
    Chromosomal Aneuploidy: 6p-
    Index Terms: Sclerocornea
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106339

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