翻訳と辞書
Words near each other
・ "O" Is for Outlaw
・ "O"-Jung.Ban.Hap.
・ "Ode-to-Napoleon" hexachord
・ "Oh Yeah!" Live
・ "Our Contemporary" regional art exhibition (Leningrad, 1975)
・ "P" Is for Peril
・ "Pimpernel" Smith
・ "Polish death camp" controversy
・ "Pro knigi" ("About books")
・ "Prosopa" Greek Television Awards
・ "Pussy Cats" Starring the Walkmen
・ "Q" Is for Quarry
・ "R" Is for Ricochet
・ "R" The King (2016 film)
・ "Rags" Ragland
・ ! (album)
・ ! (disambiguation)
・ !!
・ !!!
・ !!! (album)
・ !!Destroy-Oh-Boy!!
・ !Action Pact!
・ !Arriba! La Pachanga
・ !Hero
・ !Hero (album)
・ !Kung language
・ !Oka Tokat
・ !PAUS3
・ !T.O.O.H.!
・ !Women Art Revolution


Dictionary Lists
翻訳と辞書 辞書検索 [ 開発暫定版 ]
スポンサード リンク

chromosomal deletion syndrome : ウィキペディア英語版
chromosomal deletion syndrome

Chromosomal deletion syndromes result from deletion of parts of chromosomes. Depending on the location, size, and whom the deletion is inherited from, there are a few known different variations of chromosome deletions. Chromosomal deletion syndromes typically involve larger deletions that are visible using karyotyping techniques. Smaller deletions result in Microdeletion syndrome, which are detected using fluorescence in situ hybridization (FISH)
Examples of chromosomal deletion syndromes include 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf-Hirschhorn syndrome), Prader-WIlli Syndrome, and Angelman Syndrome.〔(【引用サイトリンク】url=http://www.merckmanuals.com/professional/pediatrics/chromosomal_anomalies/chromosomal_deletion_syndromes.html )
== 5p-Deletion ==
The chromosomal basis of Cri du chat syndrome consists of a deletion of the most terminal portion of the short arm of chromosome 5. 5p deletions, whether terminal or interstitial, occur at different breakpoints; the chromosomal basis generally consists of a deletion on the short arm of chromosome 5. The variability seen among individuals may be attributed to the differences in their genotypes. With an incidence of 1 in 15,000 to 1 in 50,000 live births, it is suggested to be one of the most common contiguous gene deletion disorders. 5p deletions are most common ''de novo'' occurrences, which are paternal in origin in 80–90% of cases, possibly arising from chromosome breakage during gamete formation in males
Some examples of the possible dysmorphic features include: downslanting palpebral fissures, broad nasal bridge, microcephaly, low-set ears, preauricular tags, round facies, short neck, micrognathia, and dental malocclusionhypertelorism, epicanthal folds, downturned corners of the mouth. There is no specific correlation found between size of deletion and severity of clinical features because the results vary so widely.

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「chromosomal deletion syndrome」の詳細全文を読む



スポンサード リンク
翻訳と辞書 : 翻訳のためのインターネットリソース

Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.