NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

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].

Show details

02p243

2p24.3
  • Blanquet V, Turleau C, Creau-Goldberg N, Cochet C, de Grouchy J: "De novo t(2;13)(p24.3;q14.2) and retinoblastoma. Mapping of two 13q14 probes by in situ hybridization." Hum. Genet. 76:102-105, 1987. [PubMed: 3502693]
    Aberration: Simple translocation
    MIM#: 180200
    Index Terms: Retinoblastoma
    Positive band
  • Roggenbuck J A, Fink J M, Mendelsohn N J.: Unique case of trisomy 2p24.3-pter with no associated monosomy. AJMG 101:50-54, 2001. [PubMed: 11343338]
    Patient E.C.
    46,XX,der(22)t(2;22)(p24.3;q13.33).
    The 3 year old girl presented with marked psychomotor delay and dysmorphic features.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 2p+
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106765

Views

  • PubReader
  • Print View
  • Cite this Page

Related information

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...