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  1. The Relation Between Chromosomal Abnormality and Enchondromatosis

    Saliha Senel, Dr Sami Ulus Children’s Hospital, Ankara, TURKEY

    30 May 2007

    The Relation Between Chromosomal Abnormality and Enchondromatosis

    Saliha Senel, M.D.Department of pediatrics, Dr Sami Ulus Children’s Hospital, Ankara, TURKEY

    Nilufer Karadeniz, M.D. Department of Genetics, Zubeyde Hanım Hospital, Ankara, TURKEY

    Emrah Senel, M.D. Department of pediatric surgery, Diskapi Children’s Hospital, Ankara, TURKEY

    Correponding author;

    Saliha Senel M.D.

    Dr Sami Ulus Children’s Hospital, Telsizler ,Ankara, Turkey

    Phone: +90 312 3056014

    Fax: +90 312 3170353

    E mail: drsaliha007@yahoo.com.tr

    The Relation Between Chromosomal Abnormality and Enchondromatosis

    Dear Editor;

    We read with great interest ‘Ollier disease’ in the September 2006 issue of ‘Orphanet journal of rare diseases’in which authors stated that there were no tumor spesific chromosomes or chromosomal regions associated with enchondromas (1).

    The relation between enchondromatosis and chromosomal abnormality is not fully known but we think the authors had to mention about the finding of Nakayama et al. that demonstrated an excess of heterochromatin in the q band of the chromosome 1 in a chordoma associated with Maffucci syndrome which is characterized by enchondromas associated with hemangiomas (2).

    References:

    1.Silve C, Jüppner H. Ollier disease. Orphanet J Rare Dis. 2006;22;1:37.

    2. Nakayama Y, Takeno Y, Tsugu H, Tomonaga M. Maffucci’s syndrome associated with intracranial chordoma : a case report. Neurosurgery. 1994;34:907-909.

    Competing interests

    None declared

  2. looking for more info...

    Karen Fredette, my own info

    9 July 2008

    I am a 34 year old woman with Ollier's disease. I have had this disease for longer than I can remember. I have never met anyone else with it either. This is the first article that I've read that explains it in terms that I can understand. This is also the first time I have read an article that speaks what I have been going through thoroughly. I have had about 20 operations on this disease;and I am told that I will always have to have more.

    Competing interests

    None declared

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