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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