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Doctor insights on: Trisomy Chromosome 21

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What are the chromosome defects affecting chromosome 10, 13 and trisomy 21?

What are the chromosome defects affecting chromosome 10, 13 and trisomy 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

Trisomy (Definition)

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


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Is it more lethal to have a trisomy of autosomes or of sex chromosomes?

Is it more lethal to have a trisomy of autosomes or of sex chromosomes?

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

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

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 tell me how can the chromosomal conditions , trisomy x, xyy syndrome and turner syndrome differ?

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

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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

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

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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

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

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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?

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

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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?

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

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What is another name for trisomy 21?

What is another name for trisomy 21?

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

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How can you treat Down syndrome (trisomy 21)?

How can you treat Down syndrome (trisomy 21)?

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

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What are the differences between trisomy 21 and xxx?

What are the differences between trisomy 21 and xxx?

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

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Is Down syndrome always caused by a defect in the 21 chromosome?

Is Down syndrome always caused by a defect in the 21 chromosome?

Extra chromosome 21.: Either complete or partial trisomy for chromosome 21 is always responsible for down syndrome. ...Read more

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What other trisomy's are there besides 21 and what do they cause?

What other trisomy's are there besides 21 and what do they cause?

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

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When should babies start to crawl if trisomy 21?

When should babies start to crawl if trisomy 21?

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

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What is the cut off risk for trisomy 21 is 1:215, should I go for amniocentesis test?

What is the cut off risk for trisomy 21 is 1:215, should I go for amniocentesis test?

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

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What is the reasons that lead to inversion duplication in chromosome 21 that lead to down syndrome?

What is the reasons that lead to inversion duplication in chromosome 21 that lead to down syndrome?

Explanation : Down syndrome is trisomia of 21 chromosome due to abnormal distribution of chromosomes in process of cell's divisions. Some risk factors as mother"s age after 35 years very important. ...Read more

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What is chromosome 13?

What is chromosome 13?

Chromosome 13: Chromosome 13 has genes that can be associated w breast cancer, bladder cancer, Hirschsprung’s dz, Schizophrenia, Wilson’ Dz, some forms of deafness, Retinoblastoma and other conditions. If this is not the info you were interested in then please clarify & re-ask. ...Read more

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Where on the chromosome willretinoblastoma occur?

Where on the chromosome willretinoblastoma occur?

See below: The gene for retinoblastoma is located on a region of the long (q) arm of chromosome 13 designated 13q14. ...Read more

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What is trisomy 23? Whats the official name for it?

What is trisomy 23? Whats the official name for it?

Klinefelter's: This link has some great information about klinefelters: http://trisomydisorders.Wordpress.Com/2008/10/30/trisomy-23/. ...Read more