05q211

5q21.1

Publication Details

  • Ofner L, Raedle J, Windpassinger C, Schwarzbraum T, Kroisel P M, Wagner K, Petek E.: Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene. J. Hum. Genet. DOI=10.1007/s10038-005-0333-x; 51:141-145, 2005; 2006. [PubMed: 16365682]
    Patient SL was born in 1993.
    46,XX,del(5)(q21.1q23.1)de novo,The size of the deletion is 18 Mb.
    The patient was referred because of failure to thrive and MR.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 5q-
    Index Terms: APC