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Ring chromosome 14 syndrome : ウィキペディア英語版 | Ring chromosome 14 syndrome
Ring chromosome 14 syndrome is a very rare human chromosome abnormality. It occurs when one or both of the telomeres that mark the ends of chromosome 14 are lost allowing the now uncapped ends to fuse together forming a ring chromosome. It causes a number of serious health issues, most notably recurrent treatment-resistant seizures and intellectual disability. ==Cause== The syndrome is caused by the loss of genetic material near the end of the long arm (q) of chromosome 14 . The break that causes the telomere(s) to be lost almost never occurs exactly at the end of the chromosome. Instead, it occurs further up and several critical genes near the end of the chromosome are lost. Ring chromosome 14 syndrome is almost never inherited. The genetic abnormality occurs randomly in sperm or egg cells or it may occur in early embryonic growth. If it occurs during embryonic growth the ring chromosome may be present in only some of a person's cells (i.e. Mosaicism).
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「Ring chromosome 14 syndrome」の詳細全文を読む
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