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Doctor insights on: Xeroderma Pigmentosum Chromosome

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What is xeroderma pigmentosum?

What is xeroderma pigmentosum?

Xeroderma pigmentosu: Xeroderma pigmentosum is a condition which makes people very sensitive to the sun (uv rays). It can cause severe sun burning & freckling of skin. It is called xeroderma because it can dry the skin out and pigmentosum because there is added skin pigment. It can affect the eyes and may be associated with a number of other symptoms. ...Read more

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How could xeroderma pigmentosum be cured?

How could xeroderma pigmentosum be cured?

No cure: As far as I know there is no cure for this disease. The treatment primarily involves avoiding all uv exposure including sunlight. It is a genetic disase and very rare. ...Read more

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What are the treatment options for xeroderma pigmentosum?

What are the treatment options for xeroderma pigmentosum?

Careful observation: This congenital condition requires sun avoidance and very close observation by an experienced dermatologist and/or plastic surgeon. Suspicious lession must be monitored and biopsies are essential to rule out malignancy. ...Read more

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What is the relation between the nature and symptoms of xeroderma pigmentosum and ataxia telangiectasia?

What is the relation between the nature and symptoms of xeroderma pigmentosum and ataxia telangiectasia?

Deficiency in some: Part of cell mechanisms that detect & repair damage to DNA molecules that encode their genome occur in 5 inherited diseases: ataxia-telangiectasia (AT), Fanconi anemia, Bloom syndrome, Cockayne syndrome & Xeroderma Pigmentosum (XP).7 different mutant repair genes cause XP; types A, C, D & E are on Chromosome 9q.22. Mutations in ATM genes cause AT. Groups A, C, D & E are on Chromosome 11q2. ...Read more

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How do I know if I have xeroderma pigmentsum?

How do I know if I have xeroderma pigmentsum?

Genetic Testing: There are several types of xp (xeroderma pigmentosa) all of which are related to genetic defects in the ability of cells to repair dna damage causes by uv (ultraviolet rays). Xp dramatically increases your risk for skin cancer. You should start with seeing a dermatologist and go from there. If there is suspicion you may have the disease, genetic testing will be required to confirm this. ...Read more

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What are some common chromosome abnormalities?

What are some common chromosome abnormalities?

Down Syndrome: Trisomies (3 instead of 2 of a certain chromosome) are most common. Down is caused by an extra copy of chromosome 21. Patients usually have lower iq, shortened lifespans and specific facial and anatomic features. Edwards syndrome involves an extra copy of 18. The most common in utero is 16, though spontaneous miscarriage rates are very high. Patau syndrome (extra 13) also has a high mortality. ...Read more

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What is the effect if you have an extra female chromosome?

What is the effect if you have an extra female chromosome?

Usually none.: 62% of 47, xxx women are reportedly physically normal. They have a tendency to be tall, with many reaching the 80%tile by adolescence. Puberty and fertility are within the normal range. Their verbal and performance iqs are 15 to 20 points lower than those of their siblings. These women do not appear to be at increased risk of having chromosomally abnormal offspring. ...Read more

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What is a chromosomal disorder?

What is a chromosomal disorder?

A genetic syndrome: Changes in chromosome (chr.) # occur by accidental gain or loss of one copy of a chr. During formation of eggs or sperm. If that atypical germ cell is part of the fetus' genetic make-up, each of its cells has the extra or missing chr. Instead of the normal 46 xx or 46 xy. Changes in chr. Structure can be inherited or accidental, during formation of germ cells or during early fetal development. ...Read more

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What are some chromosomal disorders?

What are some chromosomal disorders?

Many but rare: The most common is trisomy 21 also known as down's syndrome. You can have too many y chromosomes (klinefelters) or a missing x (turners). There are many others, mostly rare and probably a lot of others that are lethal so that even though an egg is fertilized and implants, it does not develop well enough for survivial in utero. ...Read more

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What are men like if extra y chromosome?

What are men like if extra y chromosome?

XYY: This syndrome is fairly well-known and one man in a thousand has it. Usually they escape detection as their intelligence matches the general population. They tend to be tall (which is fun) and get nasty acne (which is treatable). In my small series, parents write that they tend to speak later than other kids. The "natural criminal" stuff is media hype. ...Read more

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What are some somatic chromosome disorders?

Variable: Depends on the affected chromosome. The commonest is down's syndrome where there are three #21 chromosomes in each cell instead of the normal two. There are many different varieties of chromosome defects, each with its particular set of changes in appearance and function. ...Read more

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What chromosome in males is affected by dmd?

What chromosome in males is affected by dmd?

Define dmd: If you mean by "dmd" duchenne's muscular dystrophy, it is the x-chromosome where the mutation causing that disorder is located. Since males have only 1 x chromosome thay are affected if they have a mutated gene. ...Read more

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What are some x and y chromosomal disorders?

What are some x and y chromosomal disorders?

A few: These are uncommon. You can have extra y chromosomes termed klinefelter's syndrome and you can have only one x termed turner's syndrome. One y only, is lethal. Extra x chromosomes can occur but usually are normal. ...Read more

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What sort of disease is a chromosomal abnormality?

What sort of disease is a chromosomal abnormality?

Genetic: Chromosomal abnormalities can include extra or missing chromosomes. I will refer this to experts in medical genetics for more information. ...Read more

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Why do you lose a chromosome if you have turner's syndrome?

Why do you lose a chromosome if you have turner's syndrome?

Nondisjunction: When the cells divide in the ovaries and testes to form eggs and sperm, they go through a process called meiosis where half of the paired chromosomes go to one cell and half go to the other. There is a phenomenon called nondisjunction where the chromosomes segregate unequally, causing an extra chromosome in one cell and the lack of a chromosome in the other. ...Read more

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Is adrenoleukodystrophy chromosome problem? ....If so, which one?

Is adrenoleukodystrophy chromosome problem? ....If so, which one?

Yes: Adrenoleukodystrophy is passed down from parents to their children as an x-linked genetic trait. It therefore affects mostly males, although some women who are carriers can have milder forms of the disease. It affects approximately 1 in 20, 000 people from all races. ...Read more

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What chromosome is the one that is affected by turner's syndrome?

What chromosome is the one that is affected by turner's syndrome?

Sex chromosome: Turner syndrome involves the survival of a fetus that carries only one of 2 sex chromosomes, that being an x which assigns it female sex features. There are mosaic forms that may have mostly one x while a percentage of cells carry xx. The non-sex chromosomes are not involved in this process. ...Read more

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What does it mean if you have a inversion on the 12th chromosome?

What does it mean if you have a inversion on the 12th chromosome?

Rearrangement: An inversion occurs when a portion of a chromosome breaks then rearranges itself. It can happen in many places on the chromosome. The effects can be significant or nonsignificant depending on that section of the chromosome and what it controls. They usually do not cause any abnormalities as long as the rearrangement is balanced with no extra were missing DNA. ...Read more

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What to do if I have 47 chromosomes and no mental retardation, what are the odds?

What to do if I have 47 chromosomes and no mental retardation, what are the odds?

Depends: You did not specify the constituent of extra chromosome, autosomal or sex one. If you have Klinfelter syndrome (47XXY), odds to have a normal IQ is high (average IQ: 85-90). ...Read more

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Do abnormal chromosomes cause cancer?

Do abnormal chromosomes cause cancer?

Sometimes: Many cancers seem to have a genetic component. For example, those who have Down syndrome (an extra chromosome #21) are more likely to get leukemia than those who do not have abnormal chromosomes. However, many of the minor chromosome changes are not associated with an increased risk of getting cancer. It all depends on the chromosome problem itself. ...Read more

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What chromosome is scid associated with?

What chromosome is scid associated with?

X-linked SCIDs assoc: Mutations in 9 different genes have been found to cause the human scids. The products of 3 of the genes: 2rg, jak3, and il-7rα -are components of cytokine receptors, and 3 more: rag1, rag2, & artemis -are essential for effecting antigen receptor gene rearrangement. A deficiency of cd3δ, a component of the t-cell antigen results in a near absence of circulating mature cd3+ & complete lack of γ/δ tc. ...Read more

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Does the Asperger syndrome have xyy chromosome?

Does the Asperger syndrome have xyy chromosome?

Not by definition: Someone with xyy may has asperger's disorder but that is not part of the disorder itself. ...Read more

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Where on the chromosome will retinoblastoma occur?

Where on the chromosome will retinoblastoma occur?

See below: The gene for retinoblastoma is located on a region of the long (q) arm of chromosome 13 designated 13q14. ...Read more

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Which method of prenatal testing analyzes chromosomes?

Which method of prenatal testing analyzes chromosomes?

Invasive: The two methods for testing fetal chromosomes are chorionic villus sampling and amniocentesis. There is research on obtaining fetal dna from maternal blood, but that is not yet in widespread use. ...Read more

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I was wondering what are the chromosomes associated with usher syndrome?

I was wondering what are the chromosomes associated with usher syndrome?

Not so simple: There are at least 8 different chromosomes implicated in the many different forms of this condition. Each form is a different level of severity and should be cared for by a team who can address the hearing concerns as well as the visual effects. ...Read more

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What are the chromosome defects affecting chromosome 10, 13 and trisomy 21?

What are the chromosome defects affecting chromosome 10, 13 and trisomy 21?

Many: There are numerous disorders that can happen with abnormalities of chromosomes 10 and 13. Too many to list here. Trisomy 21 means the person has an extra chromosome 21 and this is more commonly known as Down's syndrome. There are many possible phenotypic findings with this disorder, again too many to list here including physical characteristics, heart, hearing, vision, skeletal, developmental.... ...Read more

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What's a gene compared with chromosome?

What's a gene compared with chromosome?

Gene: Chromosomes carry your genetic material or your genes. ...Read more