ATR16症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- the 1st letter of the Roman alphabet (同)a
- the blood group whose red cells carry the A antigen (同)type_A, group A
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
- answer / ampere
UpToDate Contents
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English Journal
- [Osteosarcoma and ATR-16 syndrome: Association or coincidence?]
- Regueiro García A1, Saborido Fiaño R2, González Calvete L2, Vázquez Donsión M2, Couselo Sánchez JM2, Fernández Sanmartín M2.
- Anales de pediatria (Barcelona, Spain : 2003).An Pediatr (Barc).2014 Mar 13. pii: S1695-4033(14)00086-1. doi: 10.1016/j.anpedi.2014.02.008. [Epub ahead of print]
- ATR-16 syndrome is due to alterations on chromosome 16p13.3, and is usually accompanied by alpha-thalassemia, mild-moderate mental retardation, dysmorphic facial features, skeletal and genitourinary malformations. There are no references of the combination of ATR-16 syndrome and osteosarcoma in the
- PMID 24631100
- α-Thalassemia, mental retardation, and myelodysplastic syndrome.
- Gibbons RJ.
- Cold Spring Harbor perspectives in medicine.Cold Spring Harb Perspect Med.2012 Oct 1;2(10). pii: a011759. doi: 10.1101/cshperspect.a011759.
- This article describes three rare syndromes in which the presence of α-thalassemia provided an important clue to the molecular basis of the underlying condition. It exemplifies how rare diseases allied with careful clinical observation can lead to important biological principles. Two of the syndrom
- PMID 23028133
- Refinement of the genetic cause of ATR-16.
- Harteveld CL1, Kriek M, Bijlsma EK, Erjavec Z, Balak D, Phylipsen M, Voskamp A, di Capua E, White SJ, Giordano PC.
- Human genetics.Hum Genet.2007 Nov;122(3-4):283-92. Epub 2007 Jun 28.
- Alpha thalassemia retardation associated with chromosome16 (ATR-16 syndrome) is defined as a contiguous gene syndrome resulting from haploinsufficiency of the alpha-globin gene cluster and genes involved in mental retardation (MR). To date, only few cases have been described which result from pure m
- PMID 17598130
Related Links
- ATR-X症候群とは、 X-linked α-t halassemia/ Mental R etardation Syndromeの頭文字をとった疾患名で、日本語では、X連鎖αサラセミア・精神遅滞症候群と呼ばれる疾患です。 発達の遅れ 特徴的な顔立ち ヘモグロビンの異常(貧血の一 ...
- ATR-X症候群 ネットワーク ジャパン · ATR-X症候群とは · ATR-X症候群と遺伝 · Q&A · X連鎖精神遅滞症候群 · 研究班の紹介 · 文献 · リンク · 第1回勉強会 · ATR-X症候群の診断を希望される方へ · 遺伝子変異解析へのご協力について · ATR-X ...
- ... a deletion of a part of 16pter was demonstrated in patients, similar to the deletion observed in patients with ATR-16 syndrome. Subsequent FISH analysis demonstrated that patients inherited a duplication of terminal 3q in ...
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- 英
- ATR 16 syndrome
- 関
- 16番染色体
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アキレス腱反射 Achilles tendon reflex
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