Doctor insights on:
Chromosome Abnormalities List
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 moreSee 1 more doctor answer
Discussion w/ doctor: This involves an in-depth discussion with you obstetrician. There is far too much detail and specifics to elaborate on this forum. This is a routine discussion during your prenatal care. ...Read more
Uncertain: The effect of a chromosome abnormal depends much more on the nature of the abnormality (size of the defect or duplication for example) than which chromosome is involved. You should see a genetic counselor. ...Read more
Can you please please make a list of all the diseases, disabilities and conditions linked to chromosome 17?
Chromosome 17 issues:
Cerebroretinal microangiopathy with calcifications and cysts
Charcot-Marie-Tooth disease, type 1
Ehlers-Danlos syndrome, classical type
Glycogen storage disease type II (Pompe disease)
Hereditary neuropathy with liability to pressure palsies
Maturity onset diabetes of the young type 5
Multiple synostoses syndrome
Neurofibromatosis type I
Nonsyndromic deafness, autosomal dominant
Nonsyndromic deafness, autosomal recessive
Osteogenesis Imperfecta, Type I
Osteogenesis Imperfecta, Type II
Osteogenesis Imperfecta, Type III
Osteogenesis Imperfecta, Type IV
Very long-chain acyl-coenzyme A dehydrogenase deficiency ...Read more
Chromosomal Abnormal: Chromosomal abnormalities is a broad category. It means there is some gene or genes that are missing or extra. Depending on the particular chromosome affected is the kind of therapy needed. This usually is not something fixed but you can offer modalities to strengthen the weak areas. Usually physical therapy occupational therapy and speech. You work on the problems caused by the abnormality. ...Read moreSee 1 more doctor answer
THE absolute #1...: ...Most common chromosome abnormality is trisomy 21, or down's syndrome, and that is associated with advanced maternal age, becoming more common in pregnancies in women over 36. Preexisting abnormalities in parents is close second, toxins and radiation a very distant third, with a large number having no apparent cause. ...Read moreSee 1 more doctor answer
No: The typical chromosomal(chm) defect shows up as abnormal chm in every cell of your body. Some cells do little (skin just sits there) while others do a lot ( form the heart, hands, brain). The need for detail in complex parts means the defect will have more effect. Rare chm defects produce a mosaic, where a fraction of the body has normal & others abnormal. Variable effect. ...Read more
All the same,but: The major abnormalities associated with chromosomal defects do seem to affect some specific body structures more than others.These are often the ones that require a lot of information to form right. The face/hands/heart are example areas where noticeable alterations are seen. Nonetheless, all cell lines in the body will have the same defect. ...Read moreSee 1 more doctor answer
Female: Turner's syndrome, caused by only 1 x chromosome only affects females. More than two copies of the x chromosome only affects females. ...Read more
Usually: The vast majority of trisomy patients will have the trisomy in every cell of their body. There is a small percentage that will be what is called a mosaic, where the trisomy effects a fraction of the cells. In theory the trisomy starts in one group of cells and continues to all that develop after the change, but another normal line also produces normal tissues. The amount affects the outcome. ...Read moreSee 1 more doctor answer
Prenatal: All develop in-utero, before birth.Get a more detailed answer ›
Can you have a child with the physical characteristics of edwards syndrome but not have any chromosomal abnormalities?
Yes: Some of the physical signs of edwards syndrome are non-specific, that is, shared by other syndromes, with or without chromosomal abnormalities. No one sign is diagnostic, and several signs could be present in a child with normal chromosomes and without its having edwards syndrome. ...Read moreSee 1 more doctor answer
What to do if I had 1 egg put back inside me. the other 2 had chromosomal abnormalities. I am scared they got them mixed?
Anxiety: Labs have many back up systems so things like that don't happen. I don't otherwise know how to allay your anxieties about this. There are no 100% guarantees in life. You can ask your IVF doctor if they can do chorionic villous testing, but this has risk to it, and then you must be willing to live with the findings or be able to decide to end the pregnancy if abnormalities if that is what you want. ...Read more
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- Chromosomal abnormalities
- Are genetic defects associated with abnormalities of autosome or of sex chromosomes?
- Are chromosomal abnormalities such as the ones shown confined only to certain parts of the body?
- Are chromosomal abnormalities confined to certain parts of the body?