関連する実験動画
Updated: May 8, 2026
12:31
In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
21.4K
サイクロピア,希少で致死性の先天性異常: 2件の症例報告,2025年
Berhe Tesfai1, Hailemichael Gebremariam2, Abraham Amanuel Gebrezgabhier3
1Department of Obstetrics and Gynaecology, Orotta National Referral Maternity Hospital, Maekel Region, Asmara, Eritrea.
International medical case reports journal
|February 19, 2026
まとめ
サイクロピア (Cyclopia) は,単一の眼を原因とする珍しい先天性異常であり,致命的です. 早期の産前超音波検知は,特に資源の限られた環境では,患者のカウンセリングに不可欠です.
科学分野:
- 医学遺伝学 医学遺伝学
- 発達生物学 発達生物学とは
- ネオナタロジー (新生児科学)
背景:
- サイクロピア (Cyclopia) は,非常にまれで致命的な先天性異常で,眼回路分裂の障害によって特徴づけられ,その結果,単一または密接に位置する眼球領域が生じます.
- サイクロピアの正確な原因はよくわかっていない.
- サイクロピアを患う乳児の予後は悪く,ほとんどの乳児は出生直後または幼児期に死亡する.
研究 の 目的:
- 産後診断されたサイクロピアの2つの症例を提示します.
- 生まれつきの異常を検出するための産前超音波の重要性を強調する.
- 資源の限られた環境における診断能力の改善の必要性を強調する.
主な方法:
- 新生児2人の産後サイクロピアの診断.
- 外部先天性異常に対する臨床検査.
- 診断と予後への影響のレビュー.
主要な成果:
- 産後サイクロピアの2つの症例が特定され,その特徴は,単一の中央の目と proboscis である.
- また,システィック・ヒグロマを発症したケースも1件ありました.
- 2人の赤ちゃんは,出生直後に死亡しました.
結論:
- 詳細な産前超音波検査は,サイクロピアやその他の先天性異常の早期発見に不可欠です.
- 早期診断は,より良い患者カウンセリングを促進します.
- 定期的な産前超音波検査は,特に資源が少ない国では,胎児の異常を早期に特定するために極めて重要です.
関連する概念動画
01:29Nondisjunction
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
02:30Genomic Imprinting and Inheritance
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
02:41Lethal Alleles
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
02:25Centrosome Duplication
The primary microtubule organizing center (MTOC) in animal cells is the centrosome. A centrosome has two cylindrical centrioles at its core. Each centriole consists of nine sets of three microtubules held together by proteins. The centrioles are positioned at right angles to each other and surrounded by a shapeless protein cloud called the pericentriolar matrix, or pericentriolar material (PCM).
To ensure that each daughter cell receives a centrosome after cell division, centrosome duplication...
To ensure that each daughter cell receives a centrosome after cell division, centrosome duplication...
01:29Nondisjunction
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
01:21Nondisjunction
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...