Doctor insights on:
Mosaic Trisomy 22
Trisomy 22: Trisomy is a big word that really only means three copies. Trisomy 22 means three copies of chromosome 22. Trisomy 22 causes many spontaneous pregnancy losses. If a fetus has trisomy 22 it rarely survives into the second or third trimester. If born alive, the newborn usually dies. ...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
Rarely: Most trisomy is due to lack of separation of chromosomes in the maternal gamete (egg). Rarely is trisomy of paternal origin although in downs syndrome, trisomy 21, it occurs in about 5-10%% of cases. Usually, trisomy in sperm results in a selective disadvantage and the sperm rarely compete to fertilize the egg. Trisomy 16 usually results in miscarriage. ...Read more
22 or 21 whatever?: Trisomy's are causes by an abnormality at conception. The egg & sperm are both expected to bring one chromosome from each of the parents 23 pairs. If an extra comes along in the egg or sperm (usually egg), the joining produces 22 pairs & one triplet or trisomy. Chromosomes carry the genes. Too many genes confuse the cell. Some lump this with gene disorders because gene docs follow the patients ...Read moreSee 1 more doctor answer
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
I have trisomy 8 mosaicism without any physical or mental difficulties. I have low platelets and neutrophil levels. Is rai suitable for me hyperthyroi?
Extrachromosome: This means your fetus had 3 copies of the number 20 chromosome, and no evidence of any tissue with the normal 2 copies. Chromosomes carry the instructions that tell the fetus how to form its organs and tissues. When an extra one shows up, it causes confusion in that process and many will miscarry. A few combinations like trisomy 21 can be born but have predictable health problems through life. ...Read moreSee 2 more doctor answers
Chromosomal anomaly: A small percentage of people with trisomy 13 have an extra copy of chromosome 13 in only some of the body's cells. In these people, the condition is called mosaic trisomy 13. The severity of mosaic trisomy 13 depends on the type and number of cells that have the extra chromosome. The physical features of mosaic trisomy 13 are often milder than those of full trisomy 13. ...Read moreSee 1 more doctor answer
Chromosomal tripled: 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 lethal prior to birth. ...Read more
Trisomy 13: Patau syndrome is also called trisomy 13. It occurs when a baby has 3 copies of the number 13 chromosome instead of the usual 2 copies. It causes severe physical problems and most babies with trisomy 13 die before birth or within the first year after birth. It usually happens because of an accident which occurs when the egg is fertilized, and occurs more commonly as mothers get older. ...Read moreSee 1 more doctor answer
See below: It's a rare genetic disorder where duplication of genetic material from chromosome 17 causes various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material that is duplicated. Possible symptoms: •impaired intelligence •developmental delay •reduced muscle tone •various facial anomalies •short stature. ...Read moreSee 1 more doctor answer
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
Sure!: Non-invasive tests such as maternit21 can now reliably predict the birth of an infant with down syndrome or other trisomy syndromes such as patau and edwards; this method has not risk for the pregnancy, as it is performed on maternal blood (contains fetal dna). Invasive prenatal diagnosis techniques can also arrive at the same information by sampling fetal/placental tissues (amniocentesis, cvs). ...Read more
How to know if certain people are more likely to get trisomy number 13 patau syndrome than others?
I heard that certain people are more likely to get trisomy number 13 patau syndrome than others, why is that?
Child of older mom: Increasing maternal age increases the risk for chromosome disorders, highlighted by trisomy 21 (down syndrome) but applying to rarer trisomies like the trisomy 13 causing patau syndrome (1 in 8000 births or so). Risks for trisomy increase gradually with maternal age, going from <1 in 2000 under 30 to ~ 1 in 50 over age 40, with age 35 arbitrarily set as high risk (~1 in 200). ...Read moreSee 1 more doctor answer
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
Error in formation: Humans have 23 pairs of chromosomes or 46 total. During the formation of the egg, each pair splits and one of each travels to the egg. At conception, the sperm brings one of each & the new embryo now has 23 pairs (two of each). Any time one of the chromosome pairs doesn't split & gives a pair to the egg, a third will come from the sperm and a trisomy of that chromosome is formed. ...Read moreSee 1 more doctor answer
Partial trisomy: "partial" trisomy refers to only having an extra copy of part of the chromosome, not the entire chromosome as is the case in full trisomies. The extra piece is usually inserted into or attached to another chromosome. Hope that helps. ...Read more