Doctor insights on:
What Is Trisomy 23
Klinefelter's: This link has some great information about klinefelters: http://trisomydisorders.Wordpress.Com/2008/10/30/trisomy-23/. ...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
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
This is complicated.: It's complicated because full trisomy 16 is 99.9% fatal before birth. Newborns with partial trisomy 16 may live - most have multiple birth defects and serious developmental problems. The exact types of birth defects are different depending on what parts of chromosome 16 are duplicated. Your clinical geneticist or genetic counselor can help. You can find a GC here: http://nsgc.org/p/cm/ld/fid=164. ...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
Trisomy 16: Trisomy 16 is a fetus w/ three copies of this chromosome instead of the usual 2. It is responsible for almost 10% of miscarriages in the US. Although full trisomy 16 is not compatible w/ life, there are children born with partial trisomy 16. These children have heart and vascular problems, delayed growth, speech and physical development, reproductive disorders and kidney problems. Trisomy16.org ...Read moreSee 1 more doctor answer
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
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
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
Error in formation: During the formation of the egg or sperm, the chromosome(c) pairs split with one of each going to the egg or sperm. At conception, the egg & sperm each bring 1 of each (c) & the embryo starts with a pair of each.If there is an error & the 18pair doesn't split but donates a pair of 18's to the egg, then it picks up a 3rd from the sperm. Age/toxins/radiation etc all may play a role in (c) errors. ...Read moreSee 1 more doctor answer
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