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单词 Fragile x chromosome
释义

Fragile x chromosome

中文百科

X染色体易裂症 Fragile X syndrome

(重定向自Fragile x chromosome)
患者的可能外观特征
Diagrama de herencia ligada al cromosoma X dominante (madre afectada). El SXF presenta una mayor complejidad en su transmisión, ya que se produce la expansión de trinucleótido CGG.
Distribución de exones en el gen FMR-1 y posición de las repeticiones del trinucleótido CGG (señalada por flecha). Cuando se supera el valor umbral, se produce el SXF.

X染色体易裂症是一种能造成智能障碍的病症。患病男性可能睾丸较大、咬合不正、自闭症、肌肉张力低下,面部下颚向前突出、耳朵较大、脸长、高弓状硬颚。其他问题包括脊柱前弯、漏斗胸。女性若有一条易裂X染色体,另一条正常,可能会有轻微的病征,亦可能是正常的。此症是X联隐性遗传病,男性较易发病,男性发病率是1/3600,女性1/4000~6000。

英语百科

Fragile X syndrome X染色体易裂症

(重定向自Fragile x chromosome)
Prominent characteristics of the syndrome include an elongated face, large or protruding ears, and low muscle tone.
Location of FMR1 gene on the X chromosome.
患者的可能外观特征

Fragile X syndrome (FXS), also known as Martin-Bell syndrome, or Escalante's syndrome (more commonly used in South American countries), is a genetic syndrome. Nearly half of all children with fragile X syndrome meet the criteria for a diagnosis of autism. It is an inherited cause of intellectual disability especially among boys. It results in a spectrum of intellectual disabilities ranging from mild to severe as well as physical characteristics such as an elongated face, large or protruding ears, and large testicles (macroorchidism), and behavioral characteristics such as stereotypic movements (e.g. hand-flapping), and social anxiety.

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更新时间:2025/6/20 20:01:29