triple x syndrome genetics
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Triple X Syndrome (47,XXX) Triple X Syndrome (47,XXX) Triple X Syndrome is a genetic disorder that alters the sex chromosomes. The X chromosome, along with the Y chromosome, determine the sex of an individual. Most males have only one X chromosome and one Y chromosome, while most females have two X chromosomes.
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What is Triple-X syndrome? 1 Triple-X syndrome: A rare chromosomal aberration characterized by the presence of three X (female) chromosomes. 2  The condition does not exhibit a distinctive phenotype and majority of the affected females are physically and mentally normal. rare chromosomal genetic syndrome with one or more extra X chromosomes, leading to XXX (or more rarely XXXX or XXXXX), ... more 1  ». Triple-X syndrome: A condition that is characterised by the occurrence of three X chromosomes.
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Klinefelter's Syndrome: the Effects of Having an Extra Chromosome Klinefelter's syndrome is a genetic disorder caused by a process known as “chromosome aneuploidy.. Every cell in the human body has 23 pairs of chromosomes (for a total of 46). The 23rd pair of chromosomes are the sex chromosomes.
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Alone we are rare. Together we are strong.â¥ Donate Today Fragile X syndrome is caused by a mutation in the FMR1 gene located on the X chromosome at Xq27.3. Affected individuals have an increased number of copies of a portion of this gene called CGG. The number of CGG repeats can increase from one generation to the next.
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Triple X syndrome Triple X syndrome. From Wikipedia, the free encyclopedia. Triple X syndrome (also known as triplo-X, trisomy X, XXX syndrome, 47,XXX aneuploidy) is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female.A mosaic form also occurs where only a percentage of the body cells contain XXX while the remainder carry XX.riple X syndrome is not inherited, but usually occurs as an event during the formation of reproductive cells (ovum and sperm). An error in cell division called nondisjunction can result in reproductive cells with additional chromosomes.
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Triple Screen Test It is important to remember the triple test is a screening test and not a diagnostic test. This test only notes that a mother is at a possible risk of carrying a baby with a genetic disorder.he triple screen is measuring high and low levels of AFP and abnormal levels of hCG and estriol. The results are combined with the mother’s age, weight, ethnicity and gestation of pregnancy in order to assess probabilities of potential genetic disorders.
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Learning About Fragile X Syndrome Fragile X syndrome is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes.
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Overview Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome is a common genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
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XXX Syndrome (Trisomy X) Klinefelter Syndrome and Associates is a non-profit organization that began to provide information and support for those affected by Klinefelter syndrome, but now has grown to cover many sex chromosome (X and Y chromosome) disorders, including Triple X. Related topics on YourChild: YourChild: Genetic Syndromes
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Fragile-X Syndrome It is the most common cause of inherited intellectual disability and is second only to Down's syndrome as the most common genetic cause of intellectual disability. Manga Sabaratnam (UK) and Yogesh Thakker (UK) Abstract. Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability worldwide. It is caused by a mutation of the FMR-1 (fragile-X mental retardation) gene located on the X chromosome.
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Klinefelter's Syndrome: the Effects of Having an Extra Chromosome slide 1 of 5. Klinefelter's syndrome, (also known as 47,XXY or XXY syndrome) is a genetic disorder in males caused by having an extra X chromosome instead of the usual XY pattern that men have.
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Triple X Syndrome (47,XXX) In males the sex. chromosomes are different: one is called X and one is called Y, so male chromosomes. are usually described as 46,XY. Females usually have two X chromosomes and are. described as 46,XX. Females with triple X syndrome have an extra X chromosome, so. three in all.
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Genetic disorder A woman who is a carrier of an X-linked recessive disorder (X R X r) has a 50% chance of having sons who are affected and a 50% chance of having daughters who carry one copy of the mutated gene and are therefore carriers.enetic disorders may also be complex, multifactorial, or polygenic, meaning they are likely associated with the effects of multiple genes in combination with lifestyles and environmental factors.
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X chromosome Triple X syndrome (also called 47,XXX or trisomy X) results from an extra copy of the X chromosome in each of a female's cells. Females with triple X syndrome have three X chromosomes, for a total of 47 chromosomes per cell.
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Simpson Dysmorphia Syndrome Simpson dysmorphia syndrome types 1 and 2 are two forms of a rare, X-linked recessive, inherited disorder characterized by unusually large fetuses (prenatal overgrowth) and unusually large babies (postnatal overgrowth).
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Rett Syndrome in Boys Rett Syndrome is considered a dominant genetic mutation. That means that only one X chromosome needs the mutation in order for the disorder to present. In females, the remaining normal X chromosome produces enough normal MeCP2 proteins to compensate for the mutated gene.
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Genetic Diseases The genetic cause of Turner syndrome. A girl with Turner syndrome only has one normal X sex chromosome, rather than the usual two (XX). Everyone is born with 23 pairs of chromosomes. One pair of chromosomes – the sex chromosomes – determines the baby's gender. One sex chromosome comes from the father and the other comes from the mother.
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Fragile X syndrome Fragile X syndrome occurs in about 1 in 4,000 males and 1 in 8,000 females. The first complete DNA sequence of the repeat expansion in someone with the full mutation was generated by scientists in 2012 using SMRT sequencing.
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- Most children with Rett syndrome have a mutation in a particular gene on the X chromosome. Exactly what this gene does, or how its mutation leads to Rett syndrome, isn't clear. It's believed that the single gene may influence many other genes involved in development.hen boys develop the Rett syndrome mutation, they die shortly after birth. Because boys have only one X chromosome (instead of the two girls have), the disease is more serious, and quickly fatal.
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- Klinefelter syndrome is a genetic disorder that affects males. Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. Most males have one Y and one X chromosome. Having extra X chromosomes can cause a male to have some physical traits unusual for males.
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X-linked recessive inheritance X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity.
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- Males with Klinefelter's syndrome have two X chromosomes (47,XXY), in rare cases three (48,XXXY) or four (49,XXXXY) X-chromosomes. The X-chromosomes carry genes in terms of development of testicles, sex hormone production and physical sex development in general as well as to a certain extent also height growth.
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Glossary: what does this word mean? Klinefelter syndrome is a group of conditions that affects the health of males who are born with at least one extra X chromosome. Chromosomes, found in all body cells, contain genes. Genes provide specific instructions for body characteristics and functions. For example, some genes determine height and hair color.
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- Section: TURNER’S SYNDROME (TS) IS the result of complete or partial X chromosome monosomy in a phenotypic female, associated with characteristic clinical features, the most consistent being short stature and gonadal dysgenesis.ection: Turner’s syndrome is the most common chromosomal abnormality in females, affecting 1:2,500 live female births. It is a result of absence of an X chromosome or the presence of a structurally abnormal X chromosome. Its most consistent clinical features are short stature and ovarian failure.
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- Klinefelter Syndrome is not caused by genes but is rather caused by  chromosomal nondisjunction, or an odd number of chromosomes.  Klinefelter Syndrome is particularly the p … resence of more than one  X chromosome in a male's karyotype in addition to one Y chromosome  (normal males have one X and one Y).Typically, a Klinefelter  patient will feature the XXY karyotype, although the presence of  additional X chromosomes has been reported.Klinefelter Syndrome is particularly the p … resence of more than one  X chromosome in a male's karyotype in addition to one Y chromosome  (normal males have one X and one Y).