Doctor insights on:
What Is Mosaiic Trisonomy 13
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
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
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
Chromosome error: Humans have 23 pairs of chromosomes(c) making up our dna.When the egg or sperm form, the (c) pairs are supposed to split up with 1 (c) of each pair going to the egg or sperm.If the 13 (c) does not split & both go into an egg, fertilization will add a 3rd from dad & a trisomy 13 will begin to form. The imbalanced (c) causes malformations, miscarriage or early death. ...Read moreSee 1 more doctor answer
They don't: Trisomy 13 is a spontaneous new event that occurs when 2 #13 chromosomes in either the egg (sperm) join with the one from the opposing side. The other 22 chromosomes pass only one of each. The fetus ends up with 47 chromosomes, not the normal 46. It is not passed on the genes like eye color or other features. It is an accident of nature. ...Read moreSee 1 more doctor answer
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
Neither: Any defect like trisomy 13, that involves acquiring an extra chromosome, has nothing to do with dominant or recessive genes. It occurs when usually the egg carries 2 rather than 1 of the 13 chromosomes. Fertilization by a normal sperm with one of every chromosome creates an embryo with three # 13's.If the embryo survives pregnancy it emerges as a trisomy 13 infant with all the problems they have. ...Read more
Not true: Trisomy 13 (3 copies of chromosome 13 in all your cells) is caused by an error in the way one of your two chromosome 13s move when you make an egg or a sperm. It's called nondisjunction. When it happens, it's no one's fault. Marriage between close relatives, like 1st cousins, is common in many places in the world, and trisomy 13 is just as rare there as it is everywhere else. ...Read moreSee 1 more doctor answer
Lifespan: In my clinical experience of 31 years practicing neonatal medicine, i would have to answer your question with a vague response. This is because each affected child does not necessarily have the same degree of affliction. The literature on this tells us that 99.9% die before a year of age. I have not seen one survive longer than two months, and I have seen many. ...Read more
Not really: If you suspect or have a confirmed pregnancy with T13 you have decisions to make. The condition is universally fatal & those who survive pregnancy live only a short time after birth. Delivery at a center that has medical genetics and neonatology can help confirm the diagnosis and allow the most time for you to can have to get acquainted with baby before the end comes. ...Read moreSee 1 more doctor answer
Not to my knowledge: Trisomy is caused by a robertsonian translocation in the karyotype of one of the parents or by a meiotic nondisjunction event of a sperm or egg cell. 88% of time trisomy comes from nondisjunction in the maternal egg and 8% comes from nondisjunction in the paternal sperm. ...Read more
Days/weeks.: Stillbirth (see picture) is very common. Of liveborns, 80% of affected infants die within the first month of life; only 5% survive the first six months. Severe intellectual disability, seizures, and failure to thrive are noticeable in survivors over 1 year of age. No interventions for fetal benefit are ethically justifiable during pregnancy (no cesarean section, no fetal monitoring indicated). ...Read more
Unclear: The information you list provides no specific information on which to base an answer. How was the data obtained and why? Does it relate to some specific test, a pregnancy, a genetic counseling session ? Questions should provide basic information on the problem and ask a clear question. The public site is not a chat room and none of your prior submissions are linked. Try again if you wish. ...Read more
29 years old, bilateral cpcs and mild renal dilation in my 19 wk ultrasound. What is my adjusted risk for trisomy 21,13 and 18?
Consult a Fetal: Maternal Medicine specialist if you're worried about the results of your Level 2 targeted fetal ultrasound. Your age & the results of your screens need to be factored in to calculate your risk. Bilateral Choroid Plexus Cysts are seen on 2nd trimester FUS's in 1-2% of healthy fetuses. They usually resorb in all fetuses. Genetic amniocentesis would give you a definitive answer. ...Read more
I'm 32, trisomy 13/18 u/s show 1:750, blood test shows 1:396. Doc says normal but offered extra test 4 PC of mind. Should i be concerned about result?
Only reason: Is to take the test for your peace of mind. Always a slight chance. ...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
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
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