(PRWEB) May 10 2017 Millions of people worldwide are living with X and Y Chromosomal Disorders often called Sex Chromosome Disorders and dont even know it. These d,FDNA,and,The,Focus,Foundation,Join,Forces,to,Help,Children,with,Sex,Chromosome,Disorders,Using,Facial,Analysis,biological,advanced biology technology,biology laboratory technology,biology device technology,latest biology technology
The most common types of chromosome disorders are Down syndrome, Patau syndrome, and Edwards syndrome. Other chromosome disorders...
Physicians, genetic counselors, therapists and other healthcare professionals, register now to help us learn more about rare chromosome disorders: the associated symptoms, new research and evolving treatments. Request notifications of new studies and important publications on our website. Professional contact information will appear on the CDO website unless privacy opt out requested. ...
Physicians, genetic counselors, therapists and other healthcare professionals, register now to help us learn more about rare chromosome disorders: the associated symptoms, new research and evolving treatments. Request notifications of new studies and important publications on our website. Professional contact information will appear on the CDO website unless privacy opt out requested. ...
49 XXXXY Syndrome is an extremely rare sex chromosomal abnormality; as its name indicates, a person with the syndrome has one Y chromosome and four X chromosomes. As is common with aneuploidy disorders, 49 XXXXY syndrome is often accompanied by mental retardation. It is genetic, but not hereditary. This means that while the genes of the parents cause the syndrome, there is a small chance of more than one child having the syndrome. The mental effects of 49 XXXXY Syndrome vary, much like Down syndrome. Males with the syndrome tend to have impaired speech and behavioral problems. Those with 49 XXXXY Syndrome tend to exhibit infantile secondary sex characteristics and have some skeletal anomalies. It can be considered a variant of Klinefelter syndrome. ...
Background : The presence of an extra sex chromosome is associated with an increased rate of neurodevelopmental difficulties involving language. Group averages, however, obscure a wide range of outcomes. Hypothesis: The double hit hypothesis proposes that the adverse impact of the extra sex chromosome is amplified when genes that are expressed from the sex chromosomes interact with autosomal variants that usually have only mild effects. Neuroligin-4 genes are expressed from X and Y chromosomes; they play an important role in synaptic development and have been implicated in neurodevelopment. We predict that the impact of an additional sex chromosome on neurodevelopment will be correlated with common autosomal variants involved in related synaptic functions. We describe here an analysis plan for testing this hypothesis using existing data. The analysis of genotype-phenotype associations will be conducted after this plan is published and peer-reviewed Methods: Neurodevelopmental data and DNA are
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X Chromosome Disorders information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
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Since these early discoveries, the techniques for analysis of human chromosomes, and DNA in general, have gone through several revolutions, and with each technical advancement, our understanding of the role of chromosomal abnormalities in human disease has expanded. While early studies in the 1950s and 1960s easily identified abnormalities of chromosome number (aneuploidy) and large structural alterations such as deletions (chromosomes with missing regions), duplications (extra copies of chromosome regions), or translocations (where portions of the chromosomes are rearranged), many other types of structural alterations could only be identified as techniques improved. The first important technical advance was the introduction of chromosome banding in the late 1960s, a technique that allowed for the staining of the chromosomes, so that each chromosome could be recognized by its pattern of alternating dark and light (or fluorescent and nonfluorescent) bands. Other technical innovations ranged from ...
have scientests found any disorders that are linked to the y chromosome? If they have could you tell me where I can get more info on it, cause last I heard they havnt ...
Monosomy 1p36 Deletion Syndrome 1p36 deletion syndrome is a chromosome disorder. A chromosome disorder is a change in chromosome number or structure which results in a set of features or symptoms. People with 1p36 deletion syndrome have lost a small but variable amount of genetic material from one of their 46 chromosomes. 1p36 deletion syndrome was described for the first time in the late 1990s, although the first case of a child with a deletion of 1p36 was published in 1981. Most reports suggest that 1p36 deletions affect girls more often than boys - around 65 per cent of reported cases are girls. Unique families support this: 73 per cent of the children with 1p36 deletion syndrome are girls. The reasons for this are, as yet, not known.
Our story started right at the beginning.. Anabel was born early and although she was fine when she was born, she quickly developed problems. After time spent in several hospitals she was eventually diagnosed with a dairy allergy and severe reflux and as she grew we added more foods, animals and medication to the allergy list. We tried preschool and school but her needs were too complicated and she became really sick, so we made the decision to home educate.. Whilst under investigation for growth problems, her doctors discovered that Anabel has a rare chromosome disorder, one of less than 200 people worldwide with the same. She now has been diagnosed with autism, hypermobility and hypotonia - her joints are too flexible and her muscle tone is too low, both causing pain. All this is believed to be linked with her chromosome disorder, though due to its rarity its unclear.. Being her parent is amazing, she is one awesome 9 year old. Shes caring, bubbly, creative and very funny. Being her carer is ...
Genetic testing - Health professionals - Network for test development, harmonization, validation and standardization of services in human genetics
Non-Invasive Prenatal Testing to detect chromosome aneuploidies in 57,204 pregnancies[25] "Non-invasive prenatal testing (NIPT) has been widely used to detect common fetal chromosome aneuploidies, such as trisomy 13, 18, and 21 (T13, T18, and T21), and has expanded to sex chromosome aneuploidies (SCAs) during recent years, but few studies have reported NIPT detection of rare fetal chromosome aneuploidies (RCAs). In this study, we evaluated the clinical practical performance of NIPT to analyze all 24 chromosome aneuploidies among 57,204 pregnancies in the Suzhou area of China. METHODS: This was a retrospective analysis of prospectively collected NIPT data from two next-generation sequencing (NGS) platforms (Illumina and Proton) obtained from The Affiliated Suzhou Hospital of Nanjing Medical University. NIPT results were validated by karyotyping or clinical follow-up. RESULTS: NIPT using the Illumina platform identified 586 positive cases; fetal karyotyping and follow-up results validated 178 T21 ...
Non-Invasive Prenatal Testing to detect chromosome aneuploidies in 57,204 pregnancies[25] "Non-invasive prenatal testing (NIPT) has been widely used to detect common fetal chromosome aneuploidies, such as trisomy 13, 18, and 21 (T13, T18, and T21), and has expanded to sex chromosome aneuploidies (SCAs) during recent years, but few studies have reported NIPT detection of rare fetal chromosome aneuploidies (RCAs). In this study, we evaluated the clinical practical performance of NIPT to analyze all 24 chromosome aneuploidies among 57,204 pregnancies in the Suzhou area of China. METHODS: This was a retrospective analysis of prospectively collected NIPT data from two next-generation sequencing (NGS) platforms (Illumina and Proton) obtained from The Affiliated Suzhou Hospital of Nanjing Medical University. NIPT results were validated by karyotyping or clinical follow-up. RESULTS: NIPT using the Illumina platform identified 586 positive cases; fetal karyotyping and follow-up results validated 178 T21 ...
X-trisomy, sex chromosome disorder of human females, in which three X chromosomes are present, rather than the normal pair. More common than Turners syndrome, where only one X chromosome is present, X-trisomy usually remains undetected because affected individuals appear normal, experience puberty, and are usually fertile. Statistical studies suggest a slightly increased frequency of mental disturbance, retardation, or both. ...
Book synopsis: This special issue is among the first volumes to examine the topic of early development in children with neurogenetic disorders associated with intellectual disability. It includes discussions of theoretical issues regarding the emergence of behavioural profiles during early development, as well as comprehensive accounts of early development in specific disorders such as Down syndrome, fragile X syndrome, Williams syndrome, and sex chromosome disorders. In addition, several contributions examine the latest clinical applications of this work for diagnosis, treatment, and education.. ...
Conclusions It is known that the patients with deletions in 7 p21-p14.3 chromosome region have mental retardation and facial features similar to Greig syndrome and patients with 22q12 deletions have mental retardation, hearing loss and heart disease. All of these clinical features were present in phenotype of our patient. The results of our molecular cytogenetic research allow to reveal the combination of two microdeletions which fully explain the existing phenotype of patient. The Affymetrix microarray solutions is a powerful flexible method for detection of rare chromosomal aberrations which can help to paediatricians and clinical geneticists explain and describe new phenotype in patients with rare chromosome disorders. ...
2p duplications fall into a category of chromosome disorders in which a segment of chromosome 2 is duplicated or copied. This means instead of two copies of the genes in this segment, each cell of the body now has three copies. These extra copies of genetic information may cause multiple birth defects and developmental issues. Duplications generally arise by random chance (de novo), but also can be the result of inheriting a chromosome error from the parents.. Individuals with 2p duplications generally have a similar appearance of a prominent forehead, a triangular shaped mouth, wide spaced eyes, slanted back ears, and a thin upper lip. This appearance, in addition to slow body growth and feeding difficulties, typically alerts the parents that someone might be wrong. The condition is officially diagnosed with a genetic test that allows the specialist to see that a specific portion of the chromosome is duplicated.. Symptoms of 2p duplications may include developmental delays, intellectual ...
2p duplications fall into a category of chromosome disorders in which a segment of chromosome 2 is duplicated or copied. This means instead of two copies of the genes in this segment, each cell of the body now has three copies. These extra copies of genetic information may cause multiple birth defects and developmental issues. Duplications generally arise by random chance (de novo), but also can be the result of inheriting a chromosome error from the parents.. Individuals with 2p duplications generally have a similar appearance of a prominent forehead, a triangular shaped mouth, wide spaced eyes, slanted back ears, and a thin upper lip. This appearance, in addition to slow body growth and feeding difficulties, typically alerts the parents that someone might be wrong. The condition is officially diagnosed with a genetic test that allows the specialist to see that a specific portion of the chromosome is duplicated.. Symptoms of 2p duplications may include developmental delays, intellectual ...
Clinical trial for Gynecological Infections | CHROMOSOME ABNORMALITY | chromosome disorder | Infertility | Female Genital Diseases | Aneuploidy , RCT Study to Validate niPGT-A Clinical Benefit.
The condition is a chromosome disorder which affects the part of the brain which controls appetite, growth, and sexual development. Although too weak to feed as a baby, children with PWS grow to have an insatiable appetite, and never physically feel full up. But because their bodies cant convert fat to muscle efficiently, they have to be on a strict diet, for life. If their food intake isnt controlled, they will suffer from life-threatening obesity. People with PWS are of small stature, have some form of learning disability, are unable to have children, and are unlikely ever to be able to live an independent life. Oh, and by the way, theres no cure.. ...
The condition is a chromosome disorder which affects the part of the brain which controls appetite, growth, and sexual development. Although too weak to feed as a baby, children with PWS grow to have an insatiable appetite, and never physically feel full up. But because their bodies cant convert fat to muscle efficiently, they have to be on a strict diet, for life. If their food intake isnt controlled, they will suffer from life-threatening obesity. People with PWS are of small stature, have some form of learning disability, are unable to have children, and are unlikely ever to be able to live an independent life. Oh, and by the way, theres no cure.. ...
Revealing that 8-year-old Eloise was only 2 years old when she was first diagnosed with chromosome disorder, the actress says through tears, Its just hard to see it with your kid, you know?
The high accuracy of the PrenaTest® has been proven in clinical studies. Test accuracies of more than 99% were achieved, depending on the chromosomal disorder tested. This number means that out of 100 pregnant women whose unborn child is affected by a chromosomal disorder, 99 will be determined correctly. In addition, the probability that an abnormal (that is, positive) test result is not correct is very low. This is indicated by the so-called false-positive rate of 0.1%. This value implies that in a group of 1000 unaffected pregnant women, one pregnant woman will receive an abnormal (that is, positive) test result, although her unborn child is in fact not affected by a chromosome disorder. It is important for you to know that 100% test accuracy should not be expected when non-invasive prenatal tests are used. In rare cases, there may be no or an unclear test result. However, this does not reveal anything about the health of your child. You may then repeat the PrenaTest® at no additional cost. ...
Kaitlyn is an eight year old fighting neurofibromatosis. One child out of every 25oo is born with NF. Neurofibromatosis is a chromosome disorder that can cause tumors to grow on the nerves throughout the body at anytime. NF is responsible for learning disabilities, seizures, hearing and vision loss, deformed bones, and many more difficulties. Kaitlyn has five lesions in her brain, one on her skull, and one on her hip. NF has also given her epilepsy and learning delays. For more information about Kaitlyn visit: http://www.curenf4kaitlyn.blogspot.com ...
Kaitlyn is an eight year old fighting neurofibromatosis. One child out of every 25oo is born with NF. Neurofibromatosis is a chromosome disorder that can cause tumors to grow on the nerves throughout the body at anytime. NF is responsible for learning disabilities, seizures, hearing and vision loss, deformed bones, and many more difficulties. Kaitlyn has five lesions in her brain, one on her skull, and one on her hip. NF has also given her epilepsy and learning delays. For more information about Kaitlyn visit: http://www.curenf4kaitlyn.blogspot.com ...
Did anyones baby turn out to have a chromosome disorder or abnormalities that caused the IUGR? I just had our daughter on 12/11/16 induced at 37...
First post in this section so bear with me :) My daughter has a chromosome disorder (deletion 18p) Although it does effect her - I do feel its pre
We had quite the scare after seeing the specialist November 10th. We were advised to see her since one of the twins was so much smaller. They did an ultrasound and got lots of measurements of her and found that she has a 2 vessel cord and small cyst on her placenta. With these findings she strongly suggested we have an amnio done to rule out any chromosome disorders. It was a very hard decision for us to make since the procedure has a risk of miscarriage, but in the end we decided that it was best for both the babies if we allowed the doctors to gain as much knowledge as they could. The procedure was very painful and scary but I made it through. The worst part was waiting the 10 days for the test results to come back. Our prayers were answered and the tests came back normal for both babies. I had my 24 week check up with my OBGYN last week and everything looks good but still going to see the specialist again this week to check on their growth. Thank you to all who kept our baby girls in your ...
Supplement In humans, the sex chromosomes are the X chromosome and the Y chromosome. The basis of sex determination in humans is on the pair of sex chromosomes present in an individual. For instance, females have a pair of two X chromosomes whereas males have one X chromosome and one Y chromosome. There are instances though when certain individuals have a different set of sex chromosomes. For example, an extra Y chromosome in a male is an indication of XYY syndrome. XYY syndrome is a genetic condition in which the male is born with an extra Y chromosome. Thus, males with XYY syndrome would have 47 chromosomes and a 47, XYY karyotype. One possible cause could be traced back to a nondisjunction during anaphase II of spermatogenesis. There are also cases wherein the extra Y chromosome is due to a nondisjunction during a post-zygotic mitosis.1 Symptoms are few and the person with this condition may not be aware of it especially that they generally have normal fertility. Some of the common symptoms ...
Aim: To investigate using a Western Australian (WA) genealogical database for the identification of single gene and chromosome disorders among families. Method: Hospital admissions for single gene and chromosome disorders recorded during 2000-2006 were identified from the WA Hospital Morbidity Data System. The proportion of these conditions occurring in family groups was then identified using genealogical links created through the WA Family Connections Genealogical Project. Results: There were 216 family clusters among 11,303 people who were recorded as having a genetic or chromosomal disorder on their hospital admission record. The most common single gene conditions found to occur in multiple family members included blood clotting disorders such as Factor VIII deficiency and Von Willebrands disease, followed by cystic fibrosis, myotonic dystrophies, neurofibromatosis, tuberous sclerosis, and osteogenesis imperfecta. Discussion: Single gene disorders most commonly occurring in multiple family ...
XYY syndrome is a genetic condition in which a male has an extra Y chromosome. Symptoms are usually few. They may include being taller than average, acne, and an increased risk of learning problems. The person is generally otherwise normal, including normal fertility. The condition is generally not inherited from a persons parents but rather occurs as a result of a random event during sperm cell development. Diagnosis is by a chromosomal analysis. There are 47 chromosomes, instead of the usual 46, giving a 47,XYY karyotype. Treatment may include speech therapy or extra help with schoolwork. Outcomes are generally good. Prevention is not possible. The condition occurs in about 1 in 1,000 male births. Many people with the condition are unaware that they have it. The condition was first described in 1961. People with the 47,XYY karyotype have an increased growth velocity from early childhood, with an average final height approximately 7 cm (3") above expected final height. In Edinburgh, Scotland, ...
Klinefelter syndrome (KS) is the most frequent sex chromosome disorder of the male population, accounting for almost 1 in every 650 newborn males and the most frequent form of male hypogonadism. Although KS was first described seventy-five years ago [1], many issues still remain to be elucidated regarding the phenotypic variability observed. The initial report…
XYY Syndrome is a sex chromosomal anueploidy caused by an Y chromosome in male individuals and thus resulted 47,XXY karyotype. In general XXY syndrome is regarded asymptomatic with certain cases reported to be at greater risk for behavioral problems, mild learning disability, delayed speech and language development, along with tall stature. Here we present a brief introduction to the common knowledge of XXY Syndrome. - XYY Syndrome - AbVideo™ - Support - Abnova
Turner syndrome is the only sex chromosome disorder in which complete absence of an X chromosome is compatible with life. The loss of one of the sex chromosomes in Turner syndrome probably occurs after the zygote has formed or just after the fusion of the gametes. It has been determined that approximately 50% of cases have a 45,X karyotype with the remainder having mosaic karyotypes. In addition, it has been found that in 70 to 80 % of the cases, the retained X is maternal in origin. Researchers have begun to speculate as to the possibility that genes are present on the X chromosome which are expressed differently depending on the parental origin of the X chromosome. The effects of genomic imprinting can be analyzed from the standpoint of physical and physiologic parameters in females with Turner syndrome.. ...
1. Aksglaede L, Link K, Giwercman A, Jørgensen N, Skakkebaek NE, Juul A. 47,XXY Klinefelter syndrome: clinical characteristics and age-specific recommendations for medical management. Am J Med Genet C Semin Med Genet. 2013;163C:55-63 2. Maiburg M, Repping S, Giltay J. The genetic origin of Klinefelter syndrome and its effect on spermatogenesis. Fertil Steril. 2012;98:253-60 3. Linden MG, Bender BG, Robinson A. Sex chromosome tetrasomy and pentasomy. Pediatrics. 1995;96(4 Pt 1):672-82 4. Bojesen A, Kristensen K, Birkebaek NH, Fedder J, Mosekilde L, Bennett P. et al. The metabolic syndrome is frequent in Klinefelters syndrome and is associated with abdominal obesity and hypogonadism. Diabetes Care. 2006;29:1591-8 5. Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. Nat Clin Pract Urol. 2007;4:192-204 6. Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab. 2003;88:622-6 7. Wistuba J, ...
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trisomy 18,trisomy 13,trisomy,patau syndrome,Edwards syndrome,SOFT,chromosome disorder,screening test,prenatal testing,what is trisomy 18,what is trisomy 13, what is trisomy
Welcome to a website that supports families caring for a child with trisomy 18, Edwards syndrome, or trisomy 13, Pataus syndrome, mosaic trisomy, or bereaved families who have suffered a loss from one of these chromosome disorders.
Welcome to a website that supports families caring for a child with trisomy 18, Edwards syndrome, or trisomy 13, Pataus syndrome, mosaic trisomy, or bereaved families who have suffered a loss from one of these chromosome disorders.
Elijah was diagnosed with full Trisomy 18 and Klienfelters after our 20-week ultrasound showed many markers for a chromosome disorder. After continuing our pregnancy care at a maternal fetal specialist our only goal was to have the chance to meet our little boy. Because I also had polyhydramnios we expected to go into labor at any time. We also had the daily fear of him dying in utero. Thankfully Elijah was always very active and I didnt have to wait long to feel him move if I was worried.. I went into labor on my due date and Elijah was born vaginally almost 24hrs later. We chose to not have any monitoring during labor but much to our relief I could still feel him moving around between contractions. We chose to have many family and friends on standby at the hospital so all who wanted to could meet him.. Elijah came into our world alive and crying. He was 5lbs 4oz and 19 inches long. We immediately gave him oxygen but no other interventions were needed at that time. We chose to stay in the ...
At present, women are offered screening for these three chromosome disorders at 10-14 weeks of pregnancy. The test combines an ultrasound scan and a blood test, and if it shows that a woman is at an increased risk of having an affected pregnancy, she is offered a diagnostic test, an amniocentesis or chorionic villus sampling (CVS); these are invasive tests that involve inserting a needle through the mothers abdomen into her womb to collect samples of fluid surrounding the foetus or tissue from the placenta.. With the new method, women provided a blood sample at about 11 weeks of pregnancy. The sample was divided into two; one used for the conventional screening test and one held in reserve. The first sample was used to assess the womens risk of any of the three disorders. If, on the basis of that test, the risk of having an affected pregnancy was 1 in 800 or a higher risk, the other blood sample was automatically retrieved for a DNA test (i.e. performed in a "reflex" manner), without having to ...
Constance, Germany - PrenaTest®, Europes first non-invasive molecular genetic prenatal diagnostic test (NIPT) to determine fetal chromosome disorders from
Humans have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. The two sex chromosomes determine if you become a boy or a girl. Females normally have two XX chromosomes. Males normally have an X and a Y chromosome. Klinefelter syndrome is one of a group of sex chromosome problems. It results in males who have at least one extra X chromosome. Usually, this occurs due to one extra X. This would be written as XXY. Klinefelter syndrome occurs in about 1 out of 500 - 1,000 newborn boys. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. ...
In 1942, Klinefelter et al published a report on 9 men who had enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm. In 1959, these men with Klinefelter syndrome were discovered to have an extra X chromosome (genotype XXY) instead of the usual male sex complement (genotype XY).
... is the genetic disorder where a boy is born with more than one X chromosomes. Most males have one X and one Y chromosome. Having extra X chromosomes leads to having certain physical traits unusual for males. This is the forum for discussing anything related to this health condition
Klinefelter syndrome, also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells.