{"id":37871,"date":"2022-07-12T16:31:28","date_gmt":"2022-07-12T07:31:28","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p36-deletion-syndrome\/"},"modified":"2024-01-24T12:25:11","modified_gmt":"2024-01-24T03:25:11","slug":"1p36-deletion-syndrome","status":"publish","type":"page","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases\/1p36-deletion-syndrome\/?lang=en","title":{"rendered":"1p36 deletion syndrome"},"content":{"rendered":"\n
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Overview<\/h2>\n\n\n\n

1p36<\/a> deletion syndrom is a typical severely mentally retarded disorder caused by a deletion of the 1p36<\/a> region at the end of the short arm of chromosome 1.<\/p>\n\n\n\n

Epidemiology<\/h2>\n\n\n\n

1p36<\/a> deletion syndrome is estimated to occur in 1 in 5 000 to 10 000 newborns. However, this may be an underestimate, as it is thought that some affected individuals may never be diagnosed.<\/p>\n\n\n\n

Cause<\/h2>\n\n\n\n

The 1p36<\/a> deletion syndrome is caused by the deletion of genetic material from a specific region of the short arm (p) of chromosome 1. Signs and symptoms of the 1p36<\/a> deletion syndrome are probably related to the loss of several genes in this region. The size of the deletion depends on the affected individual.<\/p>\n\n\n\n

Most cases of 1p36<\/a> deletion syndrome are not inherited. It is caused by a random chromosomal deletion that occurs during the formation of germ cells (oocytes or sperm) or early in foetal development. Usually, affected individuals have no family history of the disease.<\/p>\n\n\n\n

About 20% of people with 1p36<\/a> deletion syndrome inherit the chromosome with the deleted part from an unaffected parent. In these cases, the parent has a chromosomal rearrangement called an equilibrium translocation, which means that there is no increase or decrease in genetic material. Equilibrium translocations do not usually cause health problems, but they can become imbalanced when passed on to the next generation. Children who inherit an imbalanced translocation may develop chromosomal rearrangements containing extra or missing genetic material; people who inherit an imbalanced translocation in 1p36<\/a> deletion syndrome have missing genetic material from the short arm of chromosome 1, resulting in birth defects and other health problems characteristic of this disorder. The result is the birth defects and other health problems characteristic of this disorder.<\/p>\n\n\n\n

\n\"\u5fae\u5c0f\u6b20\u5931\u30d7\u30e9\u30f3cta\u30dc\u30bf\u30f3\"\n\"\u5fae\u5c0f\u6b20\u5931\u30d7\u30e9\u30f3\u4e00\u89a7\"<\/a>\n\"\u51fa\u751f\u524d\u8a3a\u65ad\u4e88\u7d04\u30dc\u30bf\u30f3\"<\/a>\n<\/div>\n\n