The story follows elizabeth, a young girl with triple x, through her busy day as she attends school, goes to golf practice and has a doctors appointment. After the description of downs anomaly as trisomy 21, 4 klinefelter syndrome as 47,xxy 5 and turners syndrome as 45, xo, 6 the first triple x case was published. Anjum afshan abstract triple x syndrome 47xxx is a sex chromosome abnormality characterized by presence of an extra x chromosome. Books by diana divera, a dutch woman with triple x syndrome. In fact, its estimated that only 10 percent of females affected are ever diagnosed. Axys the association for x and y chromosome variations. Talking with your child about her diagnosis of triple x syndrome. A guide for families and individuals affected by extra x and y chromosome variations thanks to the generosity of the book s author, virginia isaacs cover, msw, axys is pleased to make this book available to the x and y variation community, in its entirety, at no cost. It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. Even with loving support triple x women can have significant health problems and social problems.
The primary features are infertility and small testicles. Become informed about triple x before you talk with your child. The syndrome involves achalasia, addisonianism adrenal insufficiency of primary type, and alacrima insufficiency of tears. All future add to carts will happen without any notification and youll stay exactly where you are. The are growing a few centimeters taller than their female siblings, but usually weigh less. Becky h what cause females to have triple x syndrom. Handbook of genetic counselingxxx syndrome wikibooks. Triple x syndrome a bibliography and dictionary for physicians, patients, and genome researchers paperback july 20, 2007 by philip m. Females with trisomy x have a lower iq than their siblings.
Triple x syndrome is a genetic disorder in which a woman carries an extra x chromosome in each of her cells. Triple x syndrome is a genetic syndrome occurring once in every females and is characterized by the presence of an extra x chromosome. As some individuals are only mildly affected or asymptomatic, it is estimated that only 10% of individuals with trisomy x are. Triple x syndrome, also called trisomy x or 47,xxx, is characterized by the presence of an additional x chromosome in each of a females cells. I made this video for my senior project because i want more people to know about this disorder. Hyperornithinemiahyperammonemiahomocitrullinuria syndrome. Find out how much readingresearch they have done on xxx syndrome and assess the degree of their knowledge about heredity and genetics. The people affected with triple xsyndrome also called trisomy x or 47, xxx are female. Dear visitor, this originally dutch website gives information about the triplexsyndrome and is hosted by parents. Triple x syndrome is not rare, but it is often undiagnosed. On average, five to ten girls with triple x syndrome are born in the united states each day. Girls with triple x syndrome also known as xxx syndrome, trisomy x, and 47,xxx, might be taller than other girls.
Miya was born with a few disabilities, but that wont stop her from stunting through life with her dad since she was fourmonthsold. It does not always cause symptoms but sometimes it can result in certain physical characteristicsproblems, such as taller than average height, a small head, poor motor skills, learning disabilities or. As a result of the extra x chromosome, each cell has a total of 47 chromosomes 47,xxx instead of the usual 46. Axys is pleased to make this book available to the x and y variation. Triple x syndrome occurs in around 1 in 1,000 girls. Other symptoms can include problems with spoken language and processing spoken words, coordination problems, and weaker muscles. Despite the expectation that 50% of offspring would carry an extra x chromosome, the actual empirical risk to offspring is low. It contains a lot of international articles that have. Triple x syndrome which is also known by the name trisomy x is a genetic pathological condition found only in females where they tend to have three x chromosomes instead of the two which is the norm for each cell. Explain our intent to address their concerns and questions about triple x. Triple x is a rare genetic syndrome where there is an addition of x chromosome in a cell of a female. Most of the girls born with triple x chromosomes have no signs or symptoms at birth.
Getting disability for triple x syndrome trisomy x disabilitysecrets. Triple x syndrome occurs when something goes wrong in the gene, in most cases they do not have any unusual characteristics and there is no type of health. Triple x syndrome occurs in one of every 1,000 female births, although the condition often goes undetected in the many females who dont experience symptoms. What are the triple x syndrome symptoms in females. About 47,xxx trisomy x the association for x and y. This extra bit of working x doesnt always cause symptoms but it can. Trisomy x 47,xxx or triple x syndrome affects approximately 1 in. In the genetic makeup, the female genes comprise of xx chromosomes.
Social securitys blue book is a collection of medical conditions that automatically qualify an individual for disability benefits. Triple x syndrome, also called trisomy x or 47,xxx, is a genetic disorder that affects about 1 in 1,000 females. Triple x syndrome a bibliography and dictionary for. Turner syndrome results when each of a females cells has one normal x chromosome and the other sex chromosome is missing or altered. Triple x syndrome trisomy x results from an extra copy of the x chromosome in each of a females cells.
The syndrome was first identified by jeremy allgrove and colleagues in 1978. In march 2001, the national institutes of health issued the following warning. And it also explains why some women who have three x chromosomes, women with triple x syndrome, can have symptoms too. Baby with triple x syndrome is a master of balance. Triple x syndrome an overview sciencedirect topics. Triple x syndrome is a genetic condition found in females only. Elizabeth and her extra x is a childrens book for kids with triple x or trisomy x syndrome 47, xxx. Hyperornithinemiahyperammonemiahomocitrullinuria hhh syndrome is characterized by variable clinical presentation and age of onset. Fragile x syndrome fxs is an inherited genetic disease passed down from parents to children that causes intellectual and developmental disabilities. Diana 1969 writes about her own experiences growing up with having an extra x. The diseases are discussed in a uniform, easytofollow formata brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.
In triple x syndrome, a girl or woman has three x chromosomes instead of two x sex chromosomes. Nord guide to rare disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. Triple x syndrome pictures, symptoms, causes and treatment. Klinefelter syndrome ks, also known as 47,xxy or xxy, is the set of symptoms that result from two or more x chromosomes in males. Individuals with three x chromosomes, or triple x syndrome, appear physically normal, although by adolescence, many are taller than average.
Triplea syndrome or aaa syndrome, is a rare autosomal recessive congenital disorder. In a rare occasion, an additional x chromosome or even more is added to the xx pair thus triple x syndrome happens. My guide to trisomy x elizabeth and her extra x facebook support groups. Expanding the phenotype of triple x syndrome by nicole tartaglia, et al. Trisomy x also known as triple x syndrome occurs in approximately 1 in female births.
The first published report of a woman with a 47,xxx karyotype was by patricia a. Triple x syndrome is a syndrome with a high level of variety in the physical and behavioural phenotype. Before genetic testing, genetic counselling is important to get more information about the disorder. Research on triple x syndrome may yield more insight into brain and behaviour. Usually, males are more severely affected by this disorder than females. What is triple x syndromecausessymptomstreatmentdiagnosis. In triple x syndrome, a female has three x chromosomes. Living with klinefelter syndrome 47, xxy trisomy x 47, xxx and 47, xyy. Many girls with triple x syndrome are healthy and do not experience any symptoms. Although there is no specific blue book listing for triple x syndrome, the condition is mentioned in the blue book listings for congenital disorders affecting. This was necessary to find papers from the oldmedline database, chapters of books and. Triple x means this human presence of an extra x chromosome in their gene xxx presence of the extra x chromosome, results from errors during the normal division of reproductive cells in one of the. Notwithstanding the relatively high prevalence of triple x syndrome, there are many issues yet to be studied in physical and behavioural development up to old age.
This book helps children and adolescents with triple x understand their condition. Triple x syndrome, also termed 47,xxx syndrome occurs 1 in births, so that in the us five to ten triple x syndrome girls are born every day. X and y chromosome variations, however, are quite survivable. Often, symptoms may be subtle and many people do not realize they are affected. There is only one post on this forum but i would like to compare experiences and problems. The exception is turner syndrome, which affects females with only one x chromosome.
Females normally have two x chromosomes in all cells one x chromosome from each parent. We scrutinized references for every paper, book, etc. From what i have read women with triple x, unless they have a supportive family, can have various problems. Trisomy x is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra x chromosome in females 47,xxx instead of 46,xx. Triple x syndrome a bibliography and dictionary for physicians, patients, and genome researchers philip m. Individuals with three x chromosomes, or triple x syndrome, appear physically normal, although by. Some girls and women with triple x syndrome show no symptoms at all, causing the disorder to go undiagnosed. Affected individuals usually have delayed development of. Toddlers with triple x syndrome show delayed language development. Women with triple x have one completely working x and two copies of the mostly inactivated x. Infants are normal for the first 2448 hours followed by onset of symptoms related to hyperammonemia poor feeding, vomiting, lethargy, low temperature, rapid. The next year brought the description of patau syndrome and edwards syndrome, later defined as trisomy and trisomy 18, respectively. Triple x syndrome results from an extra copy of the x chromosome in each of a females cells. Getting disability for triple x syndrome trisomy x.
An extra copy of the x chromosome is associated with tall stature, learning problems, and other features in some girls and women. Reviews the book, human behavior, learning, and the developing. Know the causes, symptoms, treatment and diagnosis of triple x syndrome. Explain that we will share information about the syndrome, discuss the test results, how the syndrome is caused, recurrence risks. I am an older woman and may have triple x syndrome. The sex chromosome abnormalities of turner syndrome, klinefelter syndrome, and triple x syndrome were also defined in 1959, by ford and colleagues, jacobs and strong, and jacobs and associates, respectively. Sometimes, symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less body hair. Triple x syndrome, also referred to as 47, xxx or trisomy x, is a condition that is characterized by the presence of an additional x chromosome in each of a females cells.
Although females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Seek answers to your own questions from doctors, other parents, and reliable websites and books. The number of web sites offering healthrelated resources grows every day. Triple x syndrome diagnosis can be confirmed by genetic testing, in which the chromosomes are analyzed in a blood sample. The syndrome occurs in about 1 in female births, but, it is estimated that approximately 10 percent of females with the condition are diagnosed in their lifetime. Triple x syndrome is a genetic disorder that only affects women. The story of tessa, born in 2006, dx by amnio, triple x mosaic the story of joyce, born in 2001, dx by amnio the story of sofia, born in 2000, dx by amnio the story of cathy, born in 1998, dx at age 5.
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