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Doctor insights on: Chromosome Abnormalities List

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What are some common chromosome abnormalities?

What are some common chromosome abnormalities?

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 more

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Can you tell me about prenatal diagnosis of chromosome abnormalities?

Can you tell me about prenatal diagnosis of chromosome abnormalities?

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

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Can I have children if I have a chromosome abnormalities? (specifically chromosome 7)

Can I have children if I have a chromosome abnormalities? (specifically chromosome 7)

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

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Can you please please make a list of all the diseases, disabilities and conditions linked to chromosome 17?

Can you please please make a list of all the diseases, disabilities and conditions linked to chromosome 17?

Chromosome 17 issues: Alexander disease
Andersen-Tawil syndrome
Birt-Hogg-Dubé syndrome
Bladder cancer
Breast cancer
Camptomelic dysplasia
Canavan disease
Cerebroretinal microangiopathy with calcifications and cysts
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type 1
Corticobasal degeneration
Cystinosis
Depression
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, classical type
Epidermodysplasia verruciformis
Galactosemia
Glycogen storage disease type II (Pompe disease)
Hereditary neuropathy with liability to pressure palsies
Howel–Evans syndrome
Li-Fraumeni syndrome
Maturity onset diabetes of the young type 5
Miller-Dieker syndrome
Multiple synostoses syndrome
Neurofibromatosis type I
Nonsyndromic deafness
Nonsyndromic deafness, autosomal dominant
Nonsyndromic deafness, autosomal recessive
Osteogenesis imperfecta
Osteogenesis Imperfecta, Type I
Osteogenesis Imperfecta, Type II
Osteogenesis Imperfecta, Type III
Osteogenesis Imperfecta, Type IV
Potocki-Lupski syndrome
Proximal symphalangism
Smith-Magenis syndrome
Usher syndrome
Very long-chain acyl-coenzyme A dehydrogenase deficiency ...Read more

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How do people treat chromosomal abnormalities?

How do people treat chromosomal abnormalities?

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 more

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What chromosomal abnormalities only effect males?

What chromosomal abnormalities only effect males?

Males: Well, klinefelter's syndrome caused by an extra x chromosome only affects males. Extra y chromosomes only affect males. ...Read more

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What are typical symptoms of chromosomal abnormalities?

What are typical symptoms of chromosomal abnormalities?

Usually none: During pregnancy there aren't usually any symptoms of chromosomal abnormalities in the fetus. Of course, miscarriage and stillbirth can be related to a chromosomal abnormality. ...Read more

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What are the top reasons for getting chromosomal abnormalities?

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 more

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What is the definition or description of: Chromosomal abnormalities?

What is the definition or description of: Chromosomal abnormalities?

Chromosomal abn.: A chromosome anomaly, abnormality, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA. It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes. ...Read more

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What are some diseases that are the result of chromosomal abnormalities?

What are some diseases that are the result of chromosomal abnormalities?

Aneuploidies.: Down syndrome (trisomy 21 - mongolism), edwards' syndrome (trisomy 18 - lethal), patau syndrome (trisomy 13 - lethal), turner syndrome (monosomy x), digeorge syndrome (microdeletion 22q11 - velocardiofacial syndrome), wolff-hirschhorn, cri-du-chat syndromes, etc. ...Read more

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Are chromosomal abnormalities only confined to certain parts of your body?

Are chromosomal abnormalities only confined to certain parts of your body?

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

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Are chromosomal abnormalities such as extra ones confined only to certain parts of the body?

Are chromosomal abnormalities such as extra ones confined only to certain parts of the body?

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 more

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What chromosome abnormalities are accompanied by coarctation of aorta?

What chromosome abnormalities are accompanied by coarctation of aorta?

See below:: Doctors don't know for sure why certain people are born with coarctaton of the aorta (coa). Coa is fairly common in girls born with turner syndrome, a genetic disorder in which one of a girl's two x chromosomes is incomplete or missing. ...Read more

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What are some chromosomal abnormalities that only affect female fetuses?

What are some chromosomal abnormalities that only affect female fetuses?

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

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Are chromosomal abnormalities, such as trisomy, confined to certain parts of the body?

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 more

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Can you have a child with the physical characteristics of edwards syndrome but not have any chromosomal abnormalities?

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 more

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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?

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