The Role of the Genetic Counselor - Empowerment Series - 3/14/19
22:22-23:57
All right. For our next case, we have a five-year-old little boy with aortic root dilation again and mitral valve prolapse. So he also has very loose joints, which make him very flexible and on physical exam, we noticed that he had large cupped ears, a long face, and a very prominent forehead. We also learned from his parents that he has significant motor and speech delays and he's having a lot of difficulty in school.
次の症例は前回の症例と同様に大動脈拡張と僧帽弁逸脱のある5歳男児です。関節が非常にゆるく、とても柔軟な体でした。身体検査では、カップ状耳と長い顔、大きく付き出したおでこが特徴的な所見でした。また、ご両親のお話では、重度の運動遅滞および発話遅滞があり、学校生活では多くの困難を感じているとのことでした。
So while these first few symptoms of root dilation, mitral valve prolapse and joint laxity make us think of connective tissue disorders, his physical features are in developmental concerns, are actually not typically seen in these conditions, which cause us to wonder whether another genetic condition might be at play here.
大動脈基部の拡張や僧帽弁逸脱、ゆるい関節などから結合組織疾患を疑いましたが、身体的な特徴は発達上の問題であり、結合組織疾患では通常みられない所見ですので、別の遺伝性疾患の可能性を考えました。
So when I see this list of features, it actually caused my suspicion for another completely different genetic condition called Fragile X syndrome and this is a condition that can cause all the features that this little boy has, which is why I rather than a connective tissue disorder panel, as the genetic counselor, I would order fragile X testing for this child.
これらの特徴から、脆弱X症候群という全く別の遺伝性疾患が疑われました。この疾患では、この男児のすべての所見がみられます。そのため、結合組織疾患ではなく、脆弱X症候群の原因遺伝子を調べる遺伝子検査をオーダーしました。
Another important test that is standardly-recommended for all children who have developmental delays is called a chromosome microarray and this is a comprehensive test that checks whether any of the patient's chromosomes have missing or extra pieces that could be causing their developmental issues. So next slide.
発達遅滞がみられる子どもに標準で推奨されるのが、マイクロアレイ染色体検査と呼ばれる検査です。この検査では、染色体の欠失や重複などの発達障害の原因となりうる異常を総合的にチェックします。
In this child's case, his chromosome microarray was normal and his testing for fragile X syndrome was positive, which means that his features were all caused by this condition rather than a possible connective tissue disorder.
この男児では、マイクロアレイ染色体検査の結果は正常であり、脆弱X症候群の検査結果は陽性となりました。男児の特徴の原因としては、結合組織疾患の可能性も考えられたわけですが、実際の原因は、脆弱X症候群だったということです。
So again, this is another really good example that genetic testing isn't "one size fits all."
この症例からもわかることですが、1種類の遺伝子検査だけでは、すべての疾患が分かるとは限りません。
The Marfan Foundation did not participate in the translation of these materials and does not in any way endorse them. If you are interested in this topic, please refer to our website, Marfan.org, for materials approved by our Professional Advisory Board.
The Marfan Foundation は、当翻訳には関与しておらず、翻訳内容に関してはいかなる承認も行っておりません。このトピックに興味をお持ちの方は、Marfan.org にアクセスし、当協会の専門家から成る諮問委員会が承認した内容をご参照ください。
