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Doctor insights on: Chromosome Disorders

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What are the most common sex chromosome disorders?

What are the most common sex chromosome disorders?

Kliefelter & Turner: Most common is klinefelter's syndrome 47 XXY (male) next most common is turner syndrome 45 xo (female), following are all much less common:- triple x 47 xxx, hermaprodite 46 xx/xy mixed gonadal dysgenesis, 47 xyy & 48 xxyy syndromes. Hermaphroditism can also occur in 46 xx individuals with a fragment of a y chromosome. ...Read more

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Can someone with a sex chromosome disorder lead a normal life?

Can someone with a sex chromosome disorder lead a normal life?

Generally yes: But it depends on the nature of the disorder and the effect on reproduction. Some people with a sex chromosome disorder can have problems with fertility due to their condition, and this affections biologic reproduction. However, these conditions do not prevent people from establishing families through adoption or other methods. ...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 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 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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Should I get testing for chromosomal disorders?

Should I get testing for chromosomal disorders?

Depends: Maternal age over 35, prior child with a disorder, certain family histories, or depending on your ethnic background, you may need or choose testing. Discussing with your health care provider or a genetic councilor will help you decide. ...Read more

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How can I get testing for chromosomal disorders?

How can I get testing for chromosomal disorders?

Maternal Fetal Spec: You and your partner can test through a simple blood test. The baby may be tested on a limited number of things through moms blood. More advanced testing would require an amniocentesis or chorionic villi sampling (more invasive tests). What your primary dr can't order, a maternal fetal specialist can do, on referral. ...Read more

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Do I need to have testing for chromosomal disorders?

Do I need to have testing for chromosomal disorders?

Discuss with doctor: Depends on your family history and the necessity for you to be tested so discuss with your doctor that knows your history. ...Read more

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What is the definition or description of: chromosomal disorders?

What is the definition or description of: chromosomal disorders?

It's genetic: A chromosomal disorder is any disorder that involves a person's genetic makeup. Humans have 23 chromosomes that basically determine everything about an individual. Your chromosomes determine what color your eyes are, your hair color, but also your internal organs. If part of a chromosome is missing or duplicated or mutated, then we have a chromosomal disorder. ...Read more

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Are any chromosomal disorders terminal? Are the terminal ones usually found in early infancy?

Are any chromosomal disorders terminal? Are the terminal ones usually found in early infancy?

Yes and yes: The most common cause in infants (< 1 year old) is congenital disorders including from some chromosomal disorders. ...Read more

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Are chromosomal disorders considered as autism?

Are chromosomal disorders considered as autism?

No: Many kids with chromosome disorders have difficulties with communication and behavior and function similar to autistic or pdd patients in the autism spectrum. By convention, having such a medical diagnosis makes such a label inappropriate. ...Read more

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Question about perhaps chromosomal disorder: what symptoms come with marfan's syndrome?

Question about perhaps chromosomal disorder: what symptoms come with marfan's syndrome?

Tall with armspan: Greater than height, ectopic lens, dilated aorta and many other subtle problems, common in kentucky. ...Read more

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Can you tell me if the disorder, hypercholesterolemia, a recessive, dominant, coodominant, sex-linked, or chromosomal disorder?

Can you tell me if the disorder, hypercholesterolemia, a recessive, dominant, coodominant, sex-linked, or chromosomal disorder?

No: This is simplistic and if your were asked this question by a teacher, you need to straighten things out. Type ii hypercholesterolemia caused by defective LDL receptors is a semi-dominant with one dose being bad and two being much worse. Other forms have other inheritance, but most high cholesterol is polygenic (several loci) with an environmental and lifestyle influence as well. ...Read more

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Is homocystinuria a genetic or chromosomal disorder?

Is homocystinuria a genetic or chromosomal disorder?

See below: Homocystinuria is a genetic disorder which affects the metabolism of the aminoacid methionine. It is inherited as a autosomal recessive trait trait, ie the child must inherit the non working gene from both the parents to be affected. It presents as failure to thrive, mental retardation, visual problems and bone problems. ...Read more

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Is methemoglobinemia a chromosomal disorder or a gene disorder?

Is methemoglobinemia a chromosomal disorder or a gene disorder?

Acquired and genetic: Your ethnicity wouldn't include Yakutsk people of Siberia? Methemoglobin, like hemoglobin, acquires oxygen, but whereas hemoglobin will let go of it for use in our tissues, methemoglobin won't let go. Not a good situation. Some make methemoglobin when exposed to some chemicals like benzocaine, or nitrites. There are 2 inherited forms. Http://www. Nlm. Nih. Gov/medlineplus/ency/article/000562.htm ...Read more

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Are life-threatening chromosomal disorders usually detected in early infancy? Would a 2 yo have already shown signs if there is was serious problem?

Are life-threatening chromosomal disorders usually detected in early infancy? Would a 2 yo have already shown signs if there is was serious problem?

Yes: The normal impact of chromosome abnormalities is the interruption of complex fetal organ development. Too many or too few genes change the process. The heart/brain/facial features/hands & feet are all complex & usually show the effects. Some kids escape defects in one area but show them in another. Most are evident within the first months but some less threatening defects can escape early detection. ...Read more

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Is homocystinuria a gene problem or chromosomal disorder?

Is homocystinuria a gene problem or chromosomal disorder?

Both: The genome is made out of chromossomes which carry dna from both parents.
This has similarities to Marfan syndrome and it is of dominant inheritance so 50% chance of passing it to the next generation. ...Read more

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Are people with chromosome disorders & abnormal syndromes capable of reproduction, breastfeeding, and ejaculating?

Are people with chromosome disorders & abnormal syndromes capable of reproduction, breastfeeding, and ejaculating?

Varies with problem: In trisomy 21, the females are fertile but the males are not. The females that carry fragile X are generally fertile and pass the disorder to some of their male offspring who will not be fertile as adults. There are thousands of syndromes, the specifics of which are beyond the space allowed here for answers. ...Read more

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Can you tell me about chromosome disorders & abnormal syndromes:- capable of reproduction, breastfeeding, ejaculating?

Can you tell me about chromosome disorders & abnormal syndromes:- capable of reproduction, breastfeeding, ejaculating?

Varies: This varies with the defect, gender involved and target of associated abnormalities. For example, Down syndrome boys are sterile, girls are not. Fragile X carrier females can be fertile, the affected males are not. There are hundreds of named syndromes and this veries with each. ...Read more

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Is fetal alcohol syndrome a gene disorder or chromosome disorder?

Is fetal alcohol syndrome a gene disorder or chromosome disorder?

Neither: While the risk for FAS may be elevated in someone with genetic sensitivity, fetal alcohol is due to the birth defects of drinking alcohol during pregnancy. ...Read more

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Is spina bifida caused by a spinal cord injury or chromosomal disorder?

Is spina bifida caused by a spinal cord injury or chromosomal disorder?

No one knows: There seems to be an interplay of genetic and environmental factors that cause this disease. Women who have had one child with spina bifida, or who are obese or diabetic have an increased chance of having a child with the problem. It is known that taking Folic Acid during the fertile years decreases the chance of having this problem. ...Read more

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What causes spina bifida? Is spina bifida caused by a spinal cord injury, or a chromosomal disorder?

What causes spina bifida? Is spina bifida caused by a spinal cord injury, or a chromosomal disorder?

Spina: Spina bifida is not an injury. It is a birth defect caused by failure of the nervous system to fully develop. When the embryo is forming, the nervous system starts out as a "neural tube" that is supposed to grow in a very specific way. If it does not, you are left with "neural tube defects" like spina bifida. There is nothing we know of that causes it for sure, but certain things make it more likely. It is more common with children that have trisomy 13, 18, or 21, but that is just an association, not a cause. They are very common, and the only thing we know of that might help prevent them is for the mother to take folate (folic acid). The hard part about that is the mother has to take folate (folic acid) very early in the pregnancy, often before she even knows she is pregnant. That is why the all women of child-bearing age are advised to take at least 0.4 mg of Folic Acid every day. ...Read more

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Does club foot with sandal gap deformity mean a chromosomal disorder?

Does club foot with sandal gap deformity mean a chromosomal disorder?

Hereditary: Club foot is a deformity than can be seen in certain populations more than others, and if a parent has clubfoot there is a chance that a child may have it. The sandal gap refers to the appearance of the big toe being further away from the other toes when an ultrasound is performed on the fetus in the womb. ...Read more

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Help please! Is color blindness a gene disorder or a chromosomal disorder?

The same: Genes are the elements of the chromosomes and so a disorder of a gene will be carried on a chromosome (usually the x for most color blindness). It is like saying is an apartment the same as an apartment building. ...Read more

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Does a flat nasal bridge and wide set eyes always mean a chromosome disorder?

Does a flat nasal bridge and wide set eyes always mean a chromosome disorder?

No: Sometimes this is a normal inherited trait. Try to see if others in the family share that trait. If you suspect that this person has a chromosome disorder, the doctors that diagnose them are called genetecists. If the person is your child it's best to see a pediatrician about your concerns first. (of course, if this is a coworker or the like, it's best to just leave it be ;). ...Read more