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

4p- syndrome : ウィキペディア英語版
Wolf–Hirschhorn syndrome

Wolf–Hirschhorn syndrome (WHS), also known as chromosome deletion Dillan 4p syndrome, Pitt-Rogers-Danks syndrome (PRDS) or Pitt syndrome, was first described in 1961 by Americans Herbert L. Cooper and Kurt Hirschhorn and, thereafter, gained worldwide attention by publications by the German Ulrich Wolf, and Hirschhorn and their co-workers, specifically their articles in the German scientific magazine ''Humangenetik''. It is a characteristic phenotype resulting from a partial deletion of chromosomal material of the short arm of chromosome 4 (del(4p16.3)).
==Signs and symptoms==

The most common characteristics include a distinct craniofacial phenotype (microcephaly, micrognathia, short philtrum, prominent glabella, ocular hypertelorism, dysplastic ears and periauricular tags), growth restriction, intellectual disability, muscle hypotonia, seizures, and congenital heart defects. Less common characteristics include hypospadias, colobomata of the iris, renal anomalies, and deafness.〔Wieczorek D. Wolf-Hirschhorn syndrome. Orphanet encyclopedia. September 2003: http://www.orpha.net/data/patho/GB/uk-WHS.pdf〕 Antibody deficiencies are also common, including common variable immunodeficiency and IgA deficiency. T-cell immunity is normal.

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「Wolf–Hirschhorn 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.