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Doctor insights on: X Chromosome Disorders

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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 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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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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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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