Given the overwhelming volume of medical information, medical guidelines play a key role in informing clinicians and payors and guidelines directly affect how patients, and their families will be treated. In this review, we describe the production cycle of international guidelines for Turner syndrome (TS) and promote the timely and proactive dissemination of these guidelines. We encourage deliberate adoption of an updated standard of care by providers, payors, patients and their families, and professional organizations.
{"title":"Spreading the Word: Communicating Evidence-Based Guidelines About Turner Syndrome to Patients, Parents, Providers, and Payors","authors":"Angela E. Lin, Paul Kruszka","doi":"10.1002/ajmg.c.32129","DOIUrl":"10.1002/ajmg.c.32129","url":null,"abstract":"<div>\u0000 \u0000 <p>Given the overwhelming volume of medical information, medical guidelines play a key role in informing clinicians and payors and guidelines directly affect how patients, and their families will be treated. In this review, we describe the production cycle of international guidelines for Turner syndrome (TS) and promote the timely and proactive dissemination of these guidelines. We encourage deliberate adoption of an updated standard of care by providers, payors, patients and their families, and professional organizations.</p>\u0000 </div>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"199 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142969290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Marisa E. Cicione, Ashley W. Wong, Eloise Aragon, Cole Hague, Allison L. Cirino, Eleanor R. Scimone, Perman Gochyyev, Angela E. Lin
Determining karyotype-phenotype correlations for individuals with Turner syndrome (“TS individuals”) is a longstanding research endeavor. The limited literature on Turner syndrome (TS) with a ring X chromosome hinders counseling about the neuropsychological and clinical features. To further characterize these phenotypes, we compared 27 TS individuals with 46,X,r(X)/45,X (“ring X”) to 50 non-mosaic 45,X, and 27 mosaic 45,X/46,XX (“mosaic 45,X”) individuals. This retrospective cohort study of 104 individuals reported on cardiac and renal malformations, endocrine and neuropsychological conditions, and applied contemporary terminology in a nuanced framework to assess intellectual developmental disorder (IDD). We noted an increased IDD risk for TS individuals with ring X compared to mosaic 45,X and non-mosaic 45,X, though at a lower frequency (26%, 6 of 23) than previously reported. Across karyotypes, 49% (16 of 33) of TS individuals with neuropsychological evaluations had a diagnosis of other specified neurodevelopmental disorder due to TS. In TS individuals with ring X, there was an increased risk for hypothyroidism, whereas bicuspid aortic valve and horseshoe kidney were less frequent compared to other karyotypes. These results add to the limited literature on TS individuals with ring X and can inform the counseling of TS individuals, caregivers, and expectant parents.
{"title":"Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome","authors":"Marisa E. Cicione, Ashley W. Wong, Eloise Aragon, Cole Hague, Allison L. Cirino, Eleanor R. Scimone, Perman Gochyyev, Angela E. Lin","doi":"10.1002/ajmg.c.32128","DOIUrl":"10.1002/ajmg.c.32128","url":null,"abstract":"<div>\u0000 \u0000 <p>Determining karyotype-phenotype correlations for individuals with Turner syndrome (“TS individuals”) is a longstanding research endeavor. The limited literature on Turner syndrome (TS) with a ring X chromosome hinders counseling about the neuropsychological and clinical features. To further characterize these phenotypes, we compared 27 TS individuals with 46,X,r(X)/45,X (“ring X”) to 50 non-mosaic 45,X, and 27 mosaic 45,X/46,XX (“mosaic 45,X”) individuals. This retrospective cohort study of 104 individuals reported on cardiac and renal malformations, endocrine and neuropsychological conditions, and applied contemporary terminology in a nuanced framework to assess intellectual developmental disorder (IDD). We noted an increased IDD risk for TS individuals with ring X compared to mosaic 45,X and non-mosaic 45,X, though at a lower frequency (26%, 6 of 23) than previously reported. Across karyotypes, 49% (16 of 33) of TS individuals with neuropsychological evaluations had a diagnosis of other specified neurodevelopmental disorder due to TS. In TS individuals with ring X, there was an increased risk for hypothyroidism, whereas bicuspid aortic valve and horseshoe kidney were less frequent compared to other karyotypes. These results add to the limited literature on TS individuals with ring X and can inform the counseling of TS individuals, caregivers, and expectant parents.</p>\u0000 </div>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"199 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142963300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cover Image, Volume 196, Number 4, December 2024","authors":"","doi":"10.1002/ajmg.c.32126","DOIUrl":"https://doi.org/10.1002/ajmg.c.32126","url":null,"abstract":"<p>Image credit: Science Photo Library - PASIEKA/Getty Images\u0000\u0000 <figure>\u0000 <div><picture>\u0000 <source></source></picture><p></p>\u0000 </div>\u0000 </figure></p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 4","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32126","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142861064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Table of Contents, Volume 196, Number 4, December 2024","authors":"","doi":"10.1002/ajmg.c.32050","DOIUrl":"https://doi.org/10.1002/ajmg.c.32050","url":null,"abstract":"","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 4","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32050","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142861065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cover Image, Volume 196, Number 2-3, November 2024","authors":"","doi":"10.1002/ajmg.c.32125","DOIUrl":"https://doi.org/10.1002/ajmg.c.32125","url":null,"abstract":"<p><b>Cover legend: “Genes We Are Dealt” by Sujal Manohar appeared in the Spring 2024 Intima: <i>A Journal of Narrative Medicine</i>.</b>\u0000 \u0000 <figure>\u0000 <div><picture>\u0000 <source></source></picture><p></p>\u0000 </div>\u0000 </figure></p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 2-3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32125","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142754117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Roopa Kanakatti Shankar, Claus H. Gravholt, Philippe F. Backeljauw
Turner syndrome was recognized nearly 90 years ago as a distinctive condition and the understanding of pathophysiology, and phenotype has incrementally and substantially changed along with the goals of treatment. Today, multidisciplinary care is imperative, and the latest international consensus guideline has been crafted as a source of comprehensive practical recommendations for interdisciplinary care of individuals with Turner syndrome throughout their lifespan. We review the evolution of health care in Turner syndrome while highlighting the novel recommendations in the recently published international consensus guideline for the care of girls and women with Turner syndrome.
{"title":"Evolution of Health Care in Turner Syndrome","authors":"Roopa Kanakatti Shankar, Claus H. Gravholt, Philippe F. Backeljauw","doi":"10.1002/ajmg.c.32124","DOIUrl":"10.1002/ajmg.c.32124","url":null,"abstract":"<div>\u0000 \u0000 <p>Turner syndrome was recognized nearly 90 years ago as a distinctive condition and the understanding of pathophysiology, and phenotype has incrementally and substantially changed along with the goals of treatment. Today, multidisciplinary care is imperative, and the latest international consensus guideline has been crafted as a source of comprehensive practical recommendations for interdisciplinary care of individuals with Turner syndrome throughout their lifespan. We review the evolution of health care in Turner syndrome while highlighting the novel recommendations in the recently published international consensus guideline for the care of girls and women with Turner syndrome.</p>\u0000 </div>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"199 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142749713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Table of Contents, Volume 196, Number 2-3, November 2024","authors":"","doi":"10.1002/ajmg.c.32122","DOIUrl":"https://doi.org/10.1002/ajmg.c.32122","url":null,"abstract":"","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 2-3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32122","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142754118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Different, Not Less","authors":"Samantha A. Schrier Vergano","doi":"10.1002/ajmg.c.32123","DOIUrl":"10.1002/ajmg.c.32123","url":null,"abstract":"","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 2-3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142611821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
<p>In 1972, I returned from my training to join the faculty and staff at the Children's Hospital in Seattle to establish a Medical Genetics service. A remarkable orthopedist had the far-sighted idea of having an arthrogryposis clinic where all of the specialties came together on the same day, saw 10 to 15 families and then met at the end of the day to share their views. Before that, families would have to go on different days to see different specialists and the specialists never met with each other, although they had access to their different notes. Although such multidisciplinary clinics have become commonplace, this was a revolutionary idea at the time. Given my relative inexperience, I had no idea how revolutionary it was.</p><p>I was just finding my way as a professional. I had three small children and a physician husband—so as I multitasked, I didn't do a lot of reflection. I was just trying to do my new job. I was the medical geneticist in this multidisciplinary clinic who was meant to be sorting out different types of arthrogryposis. The orthopedist also wanted to produce a book for families on the various aspects of arthrogryposis care (Staheli et al. <span>1998</span>). I wasn't at all sure I could contribute a chapter on the genetic aspects of arthrogryposis.</p><p>There were very few women physicians back then. I realize now we were the “Silent Generation” and each generation is different. We were called the silent generation because we just put our heads down and focused on what needed to get done.</p><p>The very first family I saw were monozygotic (MZ) twins where one was affected and the other was not. How could this happen? It seemed unfair and baffling to a geneticist. But it was a harbinger of things to come.</p><p>Subsequently, I have been in touch with that family over the years as the boys grew up. Both were very smart, although the mother always felt the one with arthrogryposis was the smartest and a problem solver. Both went to university and graduate school. Both ending up in academia in the sciences with faculty appointments. Both married and had children. Their mother was persistently curious about how only one MZ twin could possibly have such a disabling disorder requiring so much special care and attention, but do very well spite of it. Also, of course, she worried, as all families do, about recurrence for both boys and future generations. Fortunately, these were unnecessary worries as no one else in the family has been affected and we have come to learn over the years Amyoplasia does not recur in subsequent generations, but does have higher incidence in one of MZ twins (Hall, Aldinger, and Tanaka <span>2014</span>). Mom and the boys continue to ask questions every time we were in touch, and they have stimulated my curiosity about how MZ twinning could be discordant, initiating my lifelong interest in the mysteries of MZ twinning (Hall <span>2021a</span>; Hall <span>2021b</span>). MZ twins with one affected individual,
1972年，我结束培训回国，加入西雅图儿童医院的教职员工，建立了一个医学遗传学服务。一位杰出的骨科医生有一个很有远见的想法，他想开一家关节挛缩症诊所，所有的专科医生在同一天聚集在一起，看望10到15个家庭，然后在一天结束时开会，分享他们的观点。在此之前，每个家庭必须在不同的日子去看不同的专家，而专家们彼此之间从来没有见过面，尽管他们有不同的笔记。虽然这样的多学科诊所已经司空见惯，但这在当时是一个革命性的想法。鉴于我相对缺乏经验，我不知道这有多么具有革命性。我只是在寻找职业道路。我有三个年幼的孩子，丈夫是一名医生——所以当我一心多用的时候，我没有做太多的思考。我只是想做好我的新工作。我是这个多学科诊所的医学遗传学家，负责分类不同类型的关节挛缩症。骨科医生还想为家庭制作一本关于关节挛缩症护理各个方面的书（Staheli et al. 1998）。我根本不确定我能不能在关节挛缩症的遗传方面贡献一章。那时候很少有女医生。我现在意识到我们是“沉默的一代”，每一代人都是不同的。我们被称为沉默的一代，因为我们只是低下头，专注于需要完成的事情。我看到的第一个家庭是同卵（MZ）双胞胎，其中一个受到影响，另一个没有。这是怎么发生的？对于遗传学家来说，这似乎是不公平和令人困惑的。但这是即将发生的事情的预兆。后来，在孩子们长大的这些年里，我一直和那个家庭保持着联系。两个孩子都很聪明，尽管母亲总觉得有关节挛缩症的那个更聪明，更会解决问题。两人都上了大学和研究生院。两人最终都进入了科学领域的学术界并被任命为教员。两人都结婚生子了。他们的母亲一直很好奇，为什么只有一个MZ双胞胎可能有这样的残疾障碍，需要如此多的特殊照顾和关注，但却表现得很好。当然，和所有家庭一样，她也担心男孩和后代会复发。幸运的是，这些都是不必要的担心，因为家庭中没有其他人受到影响，多年来我们逐渐了解到肌增生症不会在后代中复发，但在MZ双胞胎中的一个中确实有较高的发病率（Hall, Aldinger, and Tanaka 2014）。每次我们联系时，妈妈和男孩们都会继续问问题，他们激发了我对MZ双胞胎如何不和谐的好奇心，开始了我对MZ双胞胎之谜的终身兴趣(Hall 2021a；大厅2021 b)。在我作为遗传学家的旅程中，有一个患病个体的MZ双胞胎及其家庭非常重要。然而，这些洞见来得如此缓慢，以至于令人沮丧。那时，在3个多学科诊所和45个家庭之后，我意识到我对关节挛缩症“一无所知”。所以，我雇了三名医学生在暑假去斯波坎的斯雷纳斯医院和波特兰的斯雷纳斯医院寻找更多的关节挛缩病例。这开始了与Shriners医院和关节挛缩症的长期联系。医学院的学生很聪明，他们甚至不用找300例多发性先天性关节挛缩（AMC）就能识别出3个亚群：一个是骨科医生所说的“经典”关节挛缩，我们称之为肌增生症。第二组是由不同类型的挛缩和器官系统引起的异质群体，第三组是智力残疾，尽管当时他们称之为“智力迟钝”。回想起来，这个词是有辱人格的，但当时我们并没有意识到这是一种常态。回想起来，我和那三位在Shriners医院和西雅图儿童医院的医学生所做的图表审查从未要求进行伦理审查，这是很值得注意的。现在我很后悔，也有些尴尬，因为那是“一切照旧”，没有意识到应该发生什么。在过去的50年里，有许多其他的“与过程相关”的发展（都是好的）。关节挛缩症患者的护理和与家人的互动已经发生了变化，他们教会了我很多东西。家人会提出最好的问题，我很感激这些互动。作为一名临床医生，我们和医学生一起，利用来自Shriners医院的300个病例，开始分类。多年来，我已经收集了3000多名关节挛缩患者的临床资料，并能够描述许多亚组（表1）(Hall, Reed, and Greene 1982；霍尔，里德，斯科特等人。 1982年;霍尔和里德1982；霍尔，里德，罗森鲍姆等。1982；大厅1984;Rizzo et al. 1993；Shalev, Spiegel, and Hall 2005；大厅2012;Hall, Reed, and Driscoll 1983；Hall et al. 1983；Reid et al. 1986；Bevan et al. 2007；Reed et al. 1985；Hennekem, Rotteveel, and Hall 1992；大厅2009;Nayak et al. 2014；Froster-Iskenius, Waterson, and Hall 1988；Chitayat et al. 1990；Chitayat et al. 1991；Dieterich, Kimber, and Hall 2019；大厅1996;大厅2012 b;大厅2012 c;大厅2013;大厅2014;Hall 2019)在表型基础上。关节挛缩症被认为是一种罕见的疾病，大约发生在3000-5000个新生儿中（Lowry et al. 2010），但它一直是我的主要关注点，并提供了很大的满足感。我们位于西雅图的诊所吸引了来自世界各地的家庭前来寻求关节挛缩的专业知识——它的起源、各种治疗方法和遗传复发的可能性。这有点吓人，但也是一个非常棒的机会。我加入了世界各地的家长互助小组，帮助他们相互联系，分享我们所学到的东西。这是非常令人满意的，因为家庭是如此渴望相互学习。帮助这些家庭温暖了我的心。与此同时，我的家庭成员越来越多，医院的责任也越来越重。我只是埋头苦干。北美家长支持小组（AMSCI）受到许多家庭的启发和支持，特别是一位精力充沛的母亲，她的另一位非常聪明的肌发育不良患者。这位母亲的目标是试图将家庭及其知识和经验相互联系起来。她是AMCSI的最初组织者之一，在教育和组织方面发挥了至关重要的作用。她帮助制定了信息共享和保护受影响个人隐私的指导方针，制作了有关关节挛缩的小册子和为受影响新生儿父母提供的信息等教育材料，并合作创建了一个基金会。作为他们的医疗专家，我很高兴能参与到这些努力中来。在父母互助小组发展的早期，我认识了这位母亲，因为她对分享信息的热情，以及她无尽的好奇心、精力和问题。在我应付自己的许多要求时，她给了我灵感。大多数罕见疾病的家长支持团体，包括AMCSI，每年都会举行一次会议，通常会为新家庭提供免费的登记和旅行资金。他们还支持各种研究和合作。在这些会议上，没完没了的问题激发了更多的研究。我会在一个会议上看到30-40个家庭，在会议结束时没有得到更多的答案，我感到筋疲力尽和沮丧。这位特殊的母亲住在南卡罗来纳州的施莱纳斯医院附近，因此她鼓励施莱纳斯医院系统感到自己是他们教育和研究努力的一部分。多年来，Shriners医院一直将关节挛缩症作为一种“特殊兴趣”，对儿童和青少年进行登记，并提供基因研究，包括对非肌增生型受影响个体的全基因组测序（Dahan-Oliel et al. 2018）。这位母亲的投入和精力鼓舞了所有与她一起工作的人。这些年来，我对她女儿的情况有了很多了解，也了解了不同的家庭如何以自己的方式和步调应对挑战。让家人和我分享他们的感受、经历和处境让我感到谦卑。这让我同时充满了喜悦和沮丧。我经常在拜访家人时引用这位母亲的话，通常不是在他们第一次拜访时，而是在了解他们之后。我会告诉
{"title":"My Journey With Arthrogryposis and Some of the People Who Made a Difference","authors":"Judith G. Hall","doi":"10.1002/ajmg.c.32121","DOIUrl":"10.1002/ajmg.c.32121","url":null,"abstract":"<p>In 1972, I returned from my training to join the faculty and staff at the Children's Hospital in Seattle to establish a Medical Genetics service. A remarkable orthopedist had the far-sighted idea of having an arthrogryposis clinic where all of the specialties came together on the same day, saw 10 to 15 families and then met at the end of the day to share their views. Before that, families would have to go on different days to see different specialists and the specialists never met with each other, although they had access to their different notes. Although such multidisciplinary clinics have become commonplace, this was a revolutionary idea at the time. Given my relative inexperience, I had no idea how revolutionary it was.</p><p>I was just finding my way as a professional. I had three small children and a physician husband—so as I multitasked, I didn't do a lot of reflection. I was just trying to do my new job. I was the medical geneticist in this multidisciplinary clinic who was meant to be sorting out different types of arthrogryposis. The orthopedist also wanted to produce a book for families on the various aspects of arthrogryposis care (Staheli et al. <span>1998</span>). I wasn't at all sure I could contribute a chapter on the genetic aspects of arthrogryposis.</p><p>There were very few women physicians back then. I realize now we were the “Silent Generation” and each generation is different. We were called the silent generation because we just put our heads down and focused on what needed to get done.</p><p>The very first family I saw were monozygotic (MZ) twins where one was affected and the other was not. How could this happen? It seemed unfair and baffling to a geneticist. But it was a harbinger of things to come.</p><p>Subsequently, I have been in touch with that family over the years as the boys grew up. Both were very smart, although the mother always felt the one with arthrogryposis was the smartest and a problem solver. Both went to university and graduate school. Both ending up in academia in the sciences with faculty appointments. Both married and had children. Their mother was persistently curious about how only one MZ twin could possibly have such a disabling disorder requiring so much special care and attention, but do very well spite of it. Also, of course, she worried, as all families do, about recurrence for both boys and future generations. Fortunately, these were unnecessary worries as no one else in the family has been affected and we have come to learn over the years Amyoplasia does not recur in subsequent generations, but does have higher incidence in one of MZ twins (Hall, Aldinger, and Tanaka <span>2014</span>). Mom and the boys continue to ask questions every time we were in touch, and they have stimulated my curiosity about how MZ twinning could be discordant, initiating my lifelong interest in the mysteries of MZ twinning (Hall <span>2021a</span>; Hall <span>2021b</span>). MZ twins with one affected individual,","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 2-3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32121","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142563734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
This essay explores the narrative characteristics of genetic revelations as instances of “metagnosis.” Contrasting the scientific narrative of increasing knowledge with a series of different stories—including fictional tales—demonstrates the complexity of receiving information that changes one's conception of self, whatever the nature of the revelation. Such narrative awareness can help to communalize such experiences, reducing feelings of isolation and bewilderment.
{"title":"Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation","authors":"Danielle Spencer","doi":"10.1002/ajmg.c.32118","DOIUrl":"10.1002/ajmg.c.32118","url":null,"abstract":"<div>\u0000 \u0000 <p>This essay explores the narrative characteristics of genetic revelations as instances of “metagnosis.” Contrasting the scientific narrative of increasing knowledge with a series of different stories—including fictional tales—demonstrates the complexity of receiving information that changes one's conception of self, whatever the nature of the revelation. Such narrative awareness can help to communalize such experiences, reducing feelings of isolation and bewilderment.</p>\u0000 </div>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 2-3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142492829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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