Living with Klinefelter Syndrome (47,XXY) Trisomy X (47,XXX) and 47,XYY
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Living with Klinefelter Syndrome (47,XXY) Trisomy X (47,XXX) and 47,XYY Living with Klinefelter Syndrome (47,XXY) Trisomy X (47,XXX) and 47,XYY A guide for families and individuals affected by X and Y chromosome variations Virginia Isaacs Cover MSW New York © 2012 Virginia Isaacs Cover. All rights reserved. Published by: Virginia Isaacs Cover www.KlinefelterTrisomyX47XYY.com Diagrams Meiosis and Mitosis by Patti Isaacs, www.parrotgraphics.com Karyotypes provided by Wisconsin State Laboratory of Hygiene, Board of Regents of the University of Wisconsin Systems and Colorado Genetics Cover image of DNA helix from iStockphoto.com Book design by Dorie McClelland, www.springbookdesign.com Printed in Canada by Friesens. ISBN: 978-0-615-57400-4 I dedicate this book to the memory of my parents, George Isaacs and Florence Higgins Isaacs Contents 1 Introduction 9 What is Sex Chromosome Aneuploidy? 41 A Lifespan Approach to X and Y Aneuploid Chromosome Trisomies and their Variations 43 Klinefelter Syndrome (47, XXY) 87 Klinefelter Syndrome Variations (48, XXYY; 48, XXXY; and 49, XXXXY) 97 47, XYY, Syndrome 107 Trisomy X, Tetrasomy X and Pentasomy X 117 Psychosocial Considerations in Sex Chromosome Aneuploid Conditions 137 Educational Recommendations for Individuals with SCA 155 Transitioning from School to Adulthood 173 What’s Next? 181 Acknowledgments 185 Resources 187 Bibliography Introduction Our journey with Klinefelter syndrome began in the spring of 1987. I was 38 and four months pregnant with a very much wanted second child, after a number of years of trying to conceive. We had followed the standard recommendation to have amniocentesis because of my “advanced maternal age.” Several weeks later, I received a phone call at work from my obstetrician. She told me that the amniocentesis had shown that I was carrying a boy, and that he had an extra X chromo- some, a condition called Klinefelter syndrome. I remember that conversation now as if it had occurred this morn- ing. It is one of the events in my life seared into my memory, much like learning in seventh grade that President Kennedy had been shot, or hearing in the coffee room at work that an airliner had flown into one of the twin towers of the World Trade Center. I remember asking my obstetrician if I could put her on hold to take the call in my office, closing the door, and picking up the phone again at my desk. The doc- tor asked me if I knew anything about this condition. I told her that I remembered the genetic counselor telling us what the amniocente- sis would be looking for, including Down syndrome and other more severe trisomy conditions, which is the presence of three chromo- somes where there should be only a pair of two. I had remembered the counselor telling us that sometimes they see extra sex chromosomes, but I had never given it another thought after the procedure. This seemed to be the case with my son, and I sat there trying to absorb it. This physician had been my gynecologist for five years, and had seen me through a number of years of infertility testing and treat- ment. She had been overjoyed with us when we inexplicably achieved a pregnancy on our own. Now she was telling me that Klinefelter syndrome can cause a wide range of functioning, from barely impaired 1 to more severely affected. It was associated with somewhat lower IQ compared to siblings. Klinefelter men could be tall, but not always. They often had speech delay and learning disabilities, and sometimes behavioral problems and difficulties with fine and gross motor skills. And they were always infertile. She told me that she had already arranged for my husband and me to meet with the medical geneticist, along with our genetic counselor that afternoon. My obstetrician also told me that abortion was an option, but since I was already at eighteen weeks, she would want to do this immediately if this is what we chose. Then she told me that, although he did not have this genetic disorder, her oldest son had a similar range of disabilities, and if we wanted to discuss raising a child with mild or moderate deficits, she would be happy to talk with us. That afternoon, we met with the geneticist, who explained Kline- felter syndrome, showing us the photo of the chromosomes, called a karyotype, while we both cried. She and the genetic counselor had photocopied a number of articles and chapters of books that described the results of longitudinal studies of groups of children with sex chro- mosome aneuploidy, and they talked with us about the studies and what they could tell us about how our baby might be affected. I did not know at the time that this sort of compassionate and knowledge- able counseling was so rare. They were telling us that with Klinefelter syndrome there are often developmental and learning challenges but that when families are prepared to support their children with speech therapy, additional help with schoolwork, adapted sports programs, and a warm and nurturing family life, a child with this condition can be expected to do well. For families like ours (my husband, Al, is a political science professor and I hold masters degrees in both social work and business administration), the counselor suggested that we might have to adjust our expectations regarding careers, however, because our child might not want to or be able to get a college degree. We left the meeting, however, quite certain that we wanted to con- tinue the pregnancy. It did not matter to us whether our son became 2 Living with Klinefelter Syndrome (47,XXY), Trisomy X (47,XXX), and 47,XYY a Supreme Court justice, electrician, or truck driver; we just wanted a healthy and happy child, who felt good about himself. We went home and pored over the medical journal articles that we had been given. The range of functioning in the various longitudinal studies from Edinburgh, Toronto, and Yale was very broad, with IQs ranging from 50 to over 120, and descriptions of very well-adjusted children as well as those who had significant behavioral problems. But overall, the picture was of children in intact homes with good schooling who did quite well. We thought that we could probably provide the services that our child would need. I now know, from speaking with hundreds of parents who also received a prenatal diagnosis, that our experience was unusual. Par- ents have told me numerous times of being informed that the child would probably be retarded, or would likely end up in prison. Other parents have been told that their fetus is a “monster” and that abor- tion is the only option. I sometimes hear that the genetic counselor was well-informed about Klinefelter syndrome and that the obstetri- cian was supportive of the parent’s decision to continue the pregnancy, but more often parents are left to surf the Web looking for accurate and current information. Our diagnosis was pre-Internet, and yet the information available to laypersons continues to be limited and sketchy. It is just as possible to find questionable information predict- ing pedophilia and sexual deviancy today as it is to find more current and credible information based on the latest research. Our son, Jonathan, was born December of 1987. He was a beauti- ful and sweet baby boy, certainly on the quiet side, and far less active than his older brother had been. By the age of twelve months, we could tell that he was not meeting his developmental milestones, and by fifteen months, he was enrolled in an intensive early inter- vention program. John then began making steady progress, putting together sentences by age three, and learning his letters, colors and numbers by four. He continued into a self-contained kindergar- ten, and was mainstreamed two years later into first grade. I will Introduction 3 comment throughout this text on his development from childhood through adolescence and into early adulthood. Although I continued to look for and find occasional articles updat- ing my knowledge about Klinefelter syndrome, I really wanted to meet other families with a boy like ours. Because John had a fairly extensive schedule of therapy services, we had elected to tell our families about his extra X chromosome. My mother was the one who saw Melissa Aylstock’s letter to Dear Abby regarding her son’s diagnosis of Klinefel- ter syndrome, which was written in 1989. The national response to this letter inspired Melissa to found an organization, Klinefelters Syndrome and Associates (now KS&A), that began providing education and support for families and individuals affected by 47, XXY. In 1995, I attended a national conference in Chevy Chase, Maryland. It was the first time that I had ever met another family with a child with Klinefel- ter syndrome. Over the next fifteen years, the national advocacy groups, KS&A and AAKSIS (American Association for Klinefelter Syndrome Information and Support), provided our most important source of information regarding Klinefelter syndrome and how to manage and treat the various educational and psychosocial issues associated with it. Klinefelter Syndrome &Associates, or KS&A, has since changed its name to stand for “Knowledge, Action and Support” and has broad- ened its approach to providing information and support to the other sex chromosome aneuploid conditions, 47, XYY, and 47, XXX, and their variations. John had considerable educational challenges and developed a severe psychiatric disorder during adolescence. Other parents were the ones who helped us through these episodes. We learned from national conferences to consult the few medical specialists who had taken an interest in Klinefelter syndrome, and who were beginning to conduct research into the disorder.