A trisomy is caused by 3 genes where there should be 2. It generally happens at conception, so nothing that the mother does, doesn't do, or has while pregnant can be the cause. If it isn't at conception, it is very shortly after (within days) before the fertilized egg has even implanted in the uterus (so *nothing* the mother does can affect it).
2006-08-12 21:11:49
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answer #1
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answered by Anonymous
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trisomy 13 or Pataus Disease is caused by an extra chromosome (number 13) in the fertilised egg. In normal meiosis, the 46 chromosomes found in each human cell are separated to give 23 in each egg and 23 in each sperm so that when the join at conception, the zygote will have the normal 46 chromosomes. In trisomy 13, chromosome 13 is not separated and therefore two of them end up in one egg.
When this is fertilised, the fathers chromosome 13 is added causing major genetic abnormalities.
It occurs in 1 in every 5000 live births, but the majority of children do not survive the first month of life. Many are born with cyclopia and other anatomical defects. It is not known what causes this, but it is known that nothing a parent has done will cause it. There is no cure for this condition. It is a terrible tragedy for the parents and the child, and therefore the medical care provided is about making the child comfortable and letting nature take its course.
2006-08-13 07:51:37
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answer #2
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answered by Allasse 5
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Trisomy 13 is caused by the presence of an extra copy of chromosome 13 in the cells of the body. Typically, individuals have 46 chromosomes (23 pairs) in each cell with two copies of chromosome number 1, two copies of chromosome number 2, etc. The 23rd pair determines sex so that males usually have one X and one Y chromosome and females usually have two X chromosomes. Most individuals with trisomy 13 have three copies of this chromosome in each cell, and this form of trisomy 13 is typically not inherited.
A small percentage of people with trisomy 13 may have an extra chromosome 13 in some of their cells but not all of them (this is called mosaicism), or they may have an extra chromosome 13 attached to another chromosome (this is called translocation).1 Trisomy 13 caused by a translocation is rare, but could be inherited. A chromosome analysis (a blood test) can identify if a person with a family history of trisomy 13 has a chromosome translocation that increases the risk of having a baby with this problem.
2006-08-12 07:43:03
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answer #3
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answered by tigergirl301 6
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Fould this it may help.
Trisomy 13 occurs in about 1 out of every 5,000 live births. It is a syndrome with multiple abnormalities, many of which are not compatible with life. More than 80% of children with trisomy 13 die in the first month.
Trisomy 13 is associated with multiple abnormalities, including defects of the brain that lead to seizures, apnea, deafness, and eye abnormalities.
The eyes are small with defects in the iris (coloboma ). Most infants have a cleft lip and cleft palate, and low-set ears. Congenital heart disease is present in approximately 80% of affected infants. Hernias and genital abnormalities are common.
Symptoms Return to top
Mental retardation, severe
Seizures
Small head (microcephaly)
Scalp defects (absent skin)
Small eyes (microphthalmia)
Cleft lip and/or palate
Eyes close set (hypotelorism) -- eyes may actually fuse together into one
Iris defects (coloboma)
Pinna abnormalities and low set ears
Simian crease
Extra digits (polydactyly)
Hernias: umbilical hernia, inguinal hernia
Undescended testicle (cryptorchidism)
Hypotonia
Micrognathia
Skeletal (limb) abnormalities
Signs and tests Return to top
The infant may have a single umbilical artery at birth. There are often signs of congenital heart disease:
Ventricular septal defect (VSD)
Atrial septal defect (ASD)
Patent ductus arteriosus (PDA)
Abnormal placement of the heart (dextroversion -- the heart is placed toward the right side of the chest instead of the left)
Gastrointestinal x-rays or ultrasound may reveal abnormal rotation of the internal organs.
MRI or CT scans of the head may reveal a structural abnormality of the brain, called holoprosencephaly, where the 2 cerebral hemispheres are fused.
Chromosome studies show trisomy 13, partial trisomy, trisomy 13 mosaic, or translocation.
Treatment Return to top
Because of the severity of congenital defects, life-sustaining procedures are generally not attempted.
Support Groups Return to top
Support Organization for Trisomy 18, 13 and Related Disorders (SOFT) -- www.trisomy.org
Living with Trisomy 13 -- www.livingwithtrisomy13.org
Expectations (prognosis) Return to top
Extremely short survival time is expected. Rarely, affected persons survive to adulthood.
Complications Return to top
Complications begin almost immediately. They include breathing difficulty or lack of breathing (apnea), deafness, vision problems, feeding problems, seizures, heart failure, and others.
Calling your health care provider Return to top
Call for an appointment with your health care provider if you have had a child with Trisomy 13, and you plan to have another child.
Prevention Return to top
Trisomy 13 can be diagnosed prenatally by amniocentesis with chromosome studies of the amniotic cells. Trisomy 13 mosaicism and partial trisomy 13 also occur. Parents of infants with trisomy 13 caused by a translocation should have genetic testing and counseling, which may help them prevent recurrence.
Update Date: 4/20/2005
2006-08-12 08:19:11
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answer #4
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answered by j_emmans 6
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