FAQ - monosomy
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Are chromosomal abnormalities, such as monosomy or trisomy, confined only to certain parts of the body?
Some examples of the abnormalities I'm talking about result in Down's Syndrome (extra chromosome 21), Turner's Syndrome (only one X chromosome), Klinefelter's syndrome (an extra X chromosome), and Monosomy 7 (absent chromosome 7).
There are a number of types of trisomy syndromes they are trisomy 21, trisomy 18, trisomy 13, trisomy 8, and trisomy 22. Full trisomies cause multiple abnormalities. The effect of partial trisomy which is when only part of a chromosome is triplicated is variable depending on how much extra chromosomal material is present. So chromosomal abnormalities can be confined to specific areas depending on which type of syndrome is present. (+ info
why are kids with trisomy and monosomy on any given chromosome pair born so rarely?
the fetus had an abnormal cytogenetic profile with monosomy of chromasome no.8?
the fetus had an abnormal cytogenetic profile with monosomy of chromasome no.8 what does this mean ?? pls help
Cytogenetics is "a fusion science due to joining of cytology (the study of cells) with genetics (the study of inherited variation)". This is basically the study of chromosomes. From this definition I assume that the abnormal cytogenetic profile means that the genetic profile of the fetus (the chromosomes) contains abnormalities, which is supported by the monosomy of chromosome 8. Each chromosome for a normal profile is a pair. Variations of these can include a trisomy which is an added chromosome or a monosomy which is a partial or complete deletion of a chromosome, from what I understand from my few genetics/biology courses. A monosomy of chromosome 8 is considered a rare disease with treatment and prognosis varying depending on the severity of the deletion and location. Read below:
"Chromosome 8, Monosomy 8p is a rare chromosomal disorder characterized by deletion (monosomy) of a portion of the eighth chromosome. Associated symptoms and findings may vary greatly in range and severity from case to case. However, common features include growth deficiency; mental retardation; malformations of the skull and facial (craniofacial) region, such as a small head (microcephaly) and vertical skin folds that may cover the eyes' inner corners (epicanthal folds); heart (cardiac) abnormalities; and/or genital defects in affected males. Additional craniofacial features may also be present that tend to become less apparent with age, such as a short, broad nose; a low, wide nasal bridge; and/or a small jaw (micrognathia). In most cases, Chromosome 8, Monosomy 8p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons."
If you just search for monosomy chromosome 8 you will get lots of information about it. However, I am by no means an expert on this so your best bet is to discuss this with your genetic counselor and doctor instead of just reading the stuff online. Good luck! (+ info
Genetic testing after monosomy 21?
We had a miscarriage after 8 weeks and the diagnosis after D&C showed that it was due to monosomy 21. The OB-Gyn is suggesting that one option is for us to have genetic testing done to assess the risk in future pregnancies. Has anyone chosen genetic testing? How much did it cost? Were the information from the test useful in any way?
yes i have had the test its just a blood test and was free on the NHS i found out i am a carrier of down syndrome trisomy 21 and 15 is prada willie syndrome...
I have lost 3 babys now 1 for sure due to down syndrome and the other 2 were miscarriages so i dont know about them..
I have to have a CVS or a amnio whenever i get pregnant so i can see if the baby is healthy or not..
The test is easy its when ever you get pregnant is the hard part and everyone in my family has been tested and half of my family have found out they are a carrier of this gene too and a few members have also had miscarriges.
Dont worry thought i have been told i have a greater 10% chance of having another down syndrome child and 0.5% of prada willie syndrome so thats over 80% chance of having a healthy..
The reason prada willie is in there is because sometimes i have a 21 and a 15 stuck together and my body puts another 21 or 15 and that what makes its either d/s or p/w..
good luck to you (+ info
what isTurner's (Monosomy) NORD - Turner Syndrome? what are the symptoms? what causes it? is there a cure?
what are some random facts?
Turner syndrome is caused by the lack (or partial lack)of an x chromosome, it only affects females..there is no real "cause" of TS it is nothing to do with a parents age,ethnic origin or alcohol use........it just happens , it is sporadic.....
TS happens in about 1 in 2500 LIVE female births but up to 99% of concieved TS babies will result in misscarriage or premature stillbirth........
TS girls tend to be shorter than average, most have none functioning ovaries so are sterile, they can have problems with heart, liver, kidneys, eyes, ears and thyroid function.
They may have slight learning difficulties but most problems are mild and an be overcome.
there is no "cure" but roblems can be overcome growth hormone overcomes the height problems, IVF with donor eggs can overcome ferility problems and general medical management can help with other problems.
almost all TS girls and women can lead an independant life, they are capable of geting good jobs.. TS ladies hold jobs like nurses, lawyers, teachers etc..........in the main a TS woman/girl is just like any other......... (+ info
what is partial monosomy 2q?
my son was diagnosed with partial monosomy 2q and partial trisomie 14q (a genetic defect) but i don't how to find research on the web
i'm sorry it's partial monosomy 14q not 2q
So many of these chromosome disorders are hard to research. My daughter is 3 months old and was diagnosed with Partial Trisomy 2 and Partial Monosomy 13 with a translocation of 2 onto 13. She is thought to be the only one in the world with this arrangement so there is no info on it. I can point you in the direction of a wonderful website that has loads of info on chromosome disorders and you can also get in touch with other families dealing with similar situations. It's called Chromosome Disorder Outreach, or www.chromodisorder.org/CDO . My daughter's story is up there as well. Her name is Ella Reid Hill. Best of luck to you and I hope you find some answers. (+ info
18p partial monosomy?
my husbands little sister was diagnosed with 18p. Im now expecting our second child, i wanted to know if this is hereditary, and if we should be worried
I am not a doctor, but since most genetic anomalies cause infertility I would be extremely surprised if is a significant hereditary component.
From the wikipedia article article below:
"Most chromosome anomalies occur as an accident in the egg or sperm, and are therefore not inherited. Therefore, the anomaly is present in every cell of the body. Some anomalies, however, can happen after conception, resulting in mosaicism (where some cells have the anomaly and some do not). Chromosome anomalies can be inherited from a parent or be "de novo". This is why chromosome studies are often performed on parents when a child is found to have an anomaly."
So possible, but most unlikely if you and your husband have no issues. Chromosome abnormalities are so rare you have very little to worry about. Stay positive, eat well and take care of yourself. (+ info
monosomy - chromosome 23?
whats the specific name of a person's problem who's missing a chromosome 23? Also, what are the symptoms, could it have been prevented, and how long do most people with the problem live?
The chromosome on 23 is the sex chromosome and the only monosomic disorder is a female mutation of Turner's syndrome. Males inherit more than one X or Y chromosome, but not less-that would make them female. (+ info
what is the Genetic source colon Cancer (FAP or HNPCC)?
Is colon Cancer Trisomy or monosomy? Or none of the above. Please provide with a source for you answer =)
none (+ info
Trying to Conceive after D&C Successful stories?
My husband and I have had 2 miscarriages this year. The first one was a missed miscarriage (8 weeks and the baby stopped growing around 6 weeks)... Had a natural miscarriage. This was 3/2/09. We were told to wait 2 cycles to try again. We were 10 1/2 weeks pregnant when we were told the baby's heart stopped beating on 10/20/2009. A D&C was done on 10/22/2009. I then had a second emergency D&C to remove 250ml of blood clots in my uterus. This was on 10/26/2009. Since then, I have had one regular period (11/22/2009). I have felt fine and have had no infection. We had sex during our fertile window (I have been monitoring my ovulation for TTC purposes). We were told by our regular OB to wait 2 cycles, but my specialist told me that after one normal cycle we can try again (after internal ultrasound and a lot of blood work).
Has anyone TTC directly after a m/c and d&c and had a successful pregnancy? Last time it took us 4 months to conceive, so I'm not banking on getting pregnant right away. However, I want to know in case I do get pregnant if anyone has experienced something similar)?
P.S. The second pregnancy was lost due to Turner Syndrome (Monosomy 45XO), not because of any complications in my body.
Sorry for your loss hun, i to have had 2 miscarriages this year and i am still TTC, our time will come xxx (+ info
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