Doctor insights on:
Identify Three Causes Of 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.
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 ...Read more
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.
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.See 1 more doctor answer
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.See 1 more doctor answer
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.See 1 more doctor answer
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.
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.
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.See 1 more doctor answer
FGFR3 gene: Achondroplasia is a mutation in the fibroblast growth factor receptor 3, which is an inhibitor that regulates bone growth. In cases of achondroplasia, the fgfr3 gene is too aggressive, negatively impacting bone growth.
Embryonic demise: A fertilized egg missing a chromosome 12 can not survive. Minute pieces missing from a single chromosome 12 will be missing or disabling the active gene or genes which are normally present there. If only one set of genes doesn't cause trouble, everything will be ok. However, the imbalance may cause potentially over a thousand different disorders. Http://ghr. Nlm. Nih. Gov/chromosome/12See 1 more doctor answer
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.See 2 more doctor answers
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.See 2 more doctor answers
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.
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.
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.