Doctor insights on:
Trisomy Chromosome 21
Many: There are numerous disorders that can happen with abnormalities of chromosomes 10 and 13. Too many to list here. Trisomy 21 means the person has an extra chromosome 21 and this is more commonly known as Down's syndrome. There are many possible phenotypic findings with this disorder, again too many to list here including physical characteristics, heart , hearing, vision, skeletal, developmental.... ...Read more
Ordinary chromosomal traits require a pair of chromosomes to determine the traits. Occasionally, as a mistake in cellular division, there is a tripling of one of the chromosomes. When these occur, they usually cause unpleasant, and sometimes deadly conditions in the inheritor of these traits (e.g. Down's). Many we do not know about as they are ...Read more
Autosomes: All but trisomy 21 will kill one before or soon after birth. People who I know suspect I have XYY; this, XXY, and XXX are famously survivable and some say XYY and XXY offer plusses. ...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
Can you tell me how can the chromosomal conditions , trisomy x, xyy syndrome and turner syndrome differ?
Good online sites: Xxx and xyy have relatively little impact on those who have them and are usually incidental findings -- this is actually true despite the hoopla over xyy. I have three physician colleagues who have turner's xo and do fine. http://ghr.nlm.nih.gov/ is really good (thanks uncle sam). ...Read more
Chromosomes,POC/Fetal loss.Each metaphase was trisomy 14.Results:47,XX,+14. Is any tretmant for that?Who having abnormal Chromosomes me or my husband
Testing: You and your husband can undergo genetic testing to see if either of you are a carrier of any genetic mutations that are likely to be passed on during conception. This is a blood test for both of you. In most cases the parents are not carriers and the genetic mutation that occurred during conception was spontaneous and not likely to recur. ...Read more
27 years couple miscarried second times.biopsy=trisomy 12,47 chromosomes.chance of happening again?how to treat?why it happens?tell me briefly plz
This is a random: occurrence which can happen to anyone. How soujld get genetic counseling. How may ask for fetal blood analysis in a future pregnancy at 2 to 10 weeks with results in 3 to y days, so you will uno has to work the entire pregnancy. Hour deserved this information. How may call the genetic counselor listed on the chromosomal report for a full discussion, but an in-person consult is best.. ...Read more
Can comprehensive chromosome screening (CCS) in IVF screen for (1) partial trisomy, (2) unbalanced translocation, and (3) balanced translocation? Does testing parental karyotyping before CCS help?
Test for Aneuploidy: Aneuploidy is the term used to describe any embryo with either too many or too few chromosomes. It is the cause of greater than 60% of miscarriages, as well as the most likely reason that patients do not get pregnant from an IVF cycle. The purpose of CCS is to analyze, select and transfer only embryos that do not have abnormalities in their number of chromosomes. A genetic consult is needed; ...Read more
Hx of 4 diagnosed chromosomal pregnancies in a row trisomy 22, 18, 13 & mono 21. I'm 39 yrs old. Is there hope of a normal pregnancy using my own eggs?
Hope yes, but..: Remember, the ancient greeks said that hope was the last evil in pandora's box.. Your history sounds horrible and I am very sorry. There is always a chance of normal pregnancy with your own eggs, however i would recommend genetic counseling and ivf with preimplantation genetic diagnosis in your case (or donor eggs). Take Folic Acid 1-5 mg daily and best of luck! ...Read more
Down Syndrome: This syndrome was named for j langdon down, a physician who ran a foundling hospital in britain many years ago. He wrote up one of the first recognized descriptions of the common features of the syndrome published in a medical journal. ...Read more
Supportively: Down syndrome itself does not need to be treated however certain conditions that can go along with ds should be managed and prevented if possible. These include monitoring for disturbances in growth and obesity, getting a cardiac workup to evaluate the heart function, have hearing and vision testing, check thyroid function, monitor the blood yearly for abnormal blood counts, good dental hygiene. ...Read more
Completely different: Down syndrome (trisomy 21) is characterized by varying degrees of neurodevelopmental delay (mild to severe) propensity for dementia at early age and heart/blood disorders, but may have a near normal life span. Extra chromosome x is usually very mild condition; affected females tend to be tall and have relatively small heads and minimal decrease in their verbal and performance iq scores. ...Read more
Many: Only about 1 in four conceptions go to term. The others are mostly all affected by either trisomies or monosomies, and are incompatible with survival. Most die before implantation, and a mom won't even know that conception had occurred. May may implant, but die either before an embryo is visible (a blighted ovum) or later. Trisomies 13, 18, and 21 may survive until birth. ...Read more
They may never: Crawling ends up the least important milestone for a baby. An infant with chromosomal defect usually has low muscle tone and will be delayed in sitting and walking. Most tend to scoot on their bottoms and then learn to pull up to stand and then walk along furniture. They usually do not bother to crawl. Crawling is not necessary. They will progress their way - with appropriate help. ...Read more
Confusing question: Your age is listed at 45 with a down syndrome risk in excess of 1/100, added to a 4% risk of some unexpected outcome (cleft, premi, sick) for delivery at that age.Amniocentesis is a definitive test for ds and other chromosome issues. If it might alter what you plan for the pregnancy, it has value including preparing for a special needs kid.If it won't, why bother.Some risks are involved. ...Read more
What is the reasons that lead to inversion duplication in chromosome 21 that lead to down syndrome?
Klinefelter's: This link has some great information about klinefelters: http://trisomydisorders.Wordpress.Com/2008/10/30/trisomy-23/. ...Read more
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