Living With 47XXY, 47XXX & 47XYY (English with Spanish Translation)

We consider this an excellent resource by Virginia Isaacs Cover MSW and we are especially grateful for her taking the time out from life to write it. This is the nitty-gritty of Sex Chromosome Variations filled to the rafters with information and experiences less spoken of. It’s definitely one you’ll find difficult not to finish in one sitting and one we hope you will continue to reference throughout your life.

This guide contains lifespan information covering infancy,childhood, adolescence and adulthood for each of the supernumerary sex chromosome variation groups: Klinefelter syndrome and variations; 47,XYY syndrome; and Trisomy X and the variations affecting females, Tetrasomy and Pentasomy X. The sections regarding Klinefelter syndrome are longer than those addressing 47,XYY, and Trisomy X, largely because there has been more research on KS than on the other conditions. There is also far more medical information on hormone supplementation, infertility treatment, and co-morbid health complications, for KS indi- viduals which do not affect those with 47,XYY, or Trisomy X.

Most readers of this guide will be doing so because they themselves have the diagnosis, or a loved one, often a child, has been diagnosed with SCA. The most important thing to remember in reading through the guide’s discussions of SCA through the lifespan and the impact of SCA on quality of life is that most affected individuals manifest some, but not all, of the possible symptoms and differences associated with the diagnosis. In many people, SCA has a mild/moderate presentation. Responsive parenting, a good educational program, and competent medical care can help the individual to meet their challenges and achieve independence and a satisfactory quality of life. That is not to say that there are not persons with SCA who experience substantial disability throughout their lifetimes, but this is not the norm for the SCA trisomies. At the same time, it is necessary to be candid about the range of disability that is possible.

Most readers of this guide will be doing so because they themselves have the diagnosis

What this guide does do is to counter the myths about SCA that originated in the early studies of XXY and XYY in the population of inmates of prisons and mental hospitals. These biased samples were used to describe a population of persons who had criminal records, as well as high rates of intellectually disability (mental retardation) and severe mental illness. Unfortunately, these early descriptions of criminals and mental patients made it into medical texts commonly used by physicians even into recent years. And although XYY and XXY refer to male aneuploid conditions, many people associate Trisomy X with these two conditions, and then assume that the Trisomy X females are similarly affected.

Despite considerable recent published research providing evidence to the contrary, misinformation continues to pervade material available on the internet, which ties SCA to intellectual disability and criminal behaviour.

Continue reading……….

La versión en castellano de este libro ha sido posible gracias al esfuerzo de muchas personas que han contribuido tiempo y experiencia a traducir y revisar los distintos capítulos de este libro. La variante elegida ha sido el castellano de España, y esta versión cuenta con notas al pie explicativas en los casos en los que el contenido no queda claro fuera de un ámbito social o cultural ajeno a EEUU. Nuestro sincero agradecimiento a Ana Martínez, Angélica Vélez, Patricia Baro, Vicky Hlavac, Maria Aurora Córdova, Magda Menocal, Pilar Roque, Clarisse González, Cyndia Marrero, Johanna Hurtado, Laura Johnson and Sylvia Baker. Todas estas mujeres voluntarias provenientes de todas partes del mundo han trabajo juntas y en armonía para producir la versión en castellano de este libro.

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