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Trisomy 13 (Patau Syndrome)

February 14, 2012 4671 No of hits
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Trisomy 13 (Patau Syndrome)

Trisomy 13, also known as Patau syndrome, occurs at the moment of conception when a gene mutation occurs in either the egg or the sperm. An egg and a sperm each carry 23 chromosomes that unite to create a child with 46 chromosomes. When the 13th chromosome of either has an extra chromosome, this faulty DNA occurs in the cells of the child; it may appear in all the cells or only part of the child's cells. The locations of the faulty cells determine the type and severity of the child's birth defects. When the extra chromosome is present in only some cells the condition is called mosaicism. When only part of an extra chromosome appears it is called a partial trisomy. Trisomy 13 is not a hereditary disease; it occurs as the result of an isolated gene mutation and is seen in around one out of every 10,000 births.

Eighty percent of the children born with trisomy 13 have heart defects. Most will have severe mental retardation, cleft lip and cleft palate, small eyes, extra fingers and toes, close-set eyes, and low set ears. Internal organ abnormalities include malformed kidneys, malformed reproductive organs, high blood pressure, and incomplete brain formation. Skeletal characteristics involve spine curvatures, spina bifida, small skulls and malformed feet.

Trisomy 13 is easily diagnosed with a visual examination but the doctor will likely perform tests to determine the child's particular issues since the syndrome presents such varied abnormalities. Ultrasounds and X-rays often show that the child's internal organs are rotated inside the abdomen. Brain scans reveal that both sides of the child's brain have fused together. More than 80% of the children born with trisomy 13 die in their first month, most of them from congenital heart defects.

Those who have a child with trisomy 13 have a one percent chance of having another child with the disorder.

Tags:   Trisomy 13 (Patau Syndrome)   Trisomy 13   Patau syndrome   Chromosomes   Gene mutation   Heart defects   Cells  

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Trisomy 13, also known as Patau syndrome, occurs at the moment of conception when a gene mutation occurs in either the egg or the sperm. An egg and a sperm each carry 23 chromosomes that unite to create a child with 46 chromosomes. When the 13th chromosome of either has an extra chromosome, this...

By: Richard Martine Created 44 months ago

Showing 9 Comments

  • Alane
    December 21, 2015
    0

    Hi Rick Love your website and poivstie karma. Today I came across your T21 explained page. I was surprised to see you have described T21 as a chromosome abnormality . I recommend the following definition, a quote by Rose Mordi, Nigeria at the UN conference on World Down Syndrome Day:“Down syndrome is a naturally occurring chromosome arrangement that has always been part of the human condition.”…..naturally occurring. Not an abnormality. Not a disorder. Not ‘What’s wrong with him?” Not a 90% abortion rate.I have a naturally occurring chromosome arrangement that has always been part of the human condition. My life has just as much value as any other, including yours.Can you imagine a doctor walking in and saying, “Your baby has Down syndrome. Don’t worry though. Children have been born with Down syndrome since the beginning of time. Down syndrome is a naturally occurring chromosome arrangement that has always been part of the human condition. Your child will be blessed to be a member of an amazing population of people that make this world a better place to live in.”Something as simple as the language we use could change the perception of how the world views my child and so many other children.What a wonderful, wonderful world it would be.Thanks for everything Rick!

    1
  • Alane
    December 21, 2015
    0

    Hi Rick Love your website and poivstie karma. Today I came across your T21 explained page. I was surprised to see you have described T21 as a chromosome abnormality . I recommend the following definition, a quote by Rose Mordi, Nigeria at the UN conference on World Down Syndrome Day:“Down syndrome is a naturally occurring chromosome arrangement that has always been part of the human condition.”…..naturally occurring. Not an abnormality. Not a disorder. Not ‘What’s wrong with him?” Not a 90% abortion rate.I have a naturally occurring chromosome arrangement that has always been part of the human condition. My life has just as much value as any other, including yours.Can you imagine a doctor walking in and saying, “Your baby has Down syndrome. Don’t worry though. Children have been born with Down syndrome since the beginning of time. Down syndrome is a naturally occurring chromosome arrangement that has always been part of the human condition. Your child will be blessed to be a member of an amazing population of people that make this world a better place to live in.”Something as simple as the language we use could change the perception of how the world views my child and so many other children.What a wonderful, wonderful world it would be.Thanks for everything Rick!

    2
  • Alane
    December 21, 2015
    0

    Hi Rick Love your website and poivstie karma. Today I came across your T21 explained page. I was surprised to see you have described T21 as a chromosome abnormality . I recommend the following definition, a quote by Rose Mordi, Nigeria at the UN conference on World Down Syndrome Day:“Down syndrome is a naturally occurring chromosome arrangement that has always been part of the human condition.”…..naturally occurring. Not an abnormality. Not a disorder. Not ‘What’s wrong with him?” Not a 90% abortion rate.I have a naturally occurring chromosome arrangement that has always been part of the human condition. My life has just as much value as any other, including yours.Can you imagine a doctor walking in and saying, “Your baby has Down syndrome. Don’t worry though. Children have been born with Down syndrome since the beginning of time. Down syndrome is a naturally occurring chromosome arrangement that has always been part of the human condition. Your child will be blessed to be a member of an amazing population of people that make this world a better place to live in.”Something as simple as the language we use could change the perception of how the world views my child and so many other children.What a wonderful, wonderful world it would be.Thanks for everything Rick!

    3
  • Chocho
    December 22, 2015
    0

    Cheryl MertzOctober 4, 2011Having a son born with Down Syndrome was a huge surprise,especially when I was 22 years old. Adam is now 33 years old and he is a great man. Graduated from High scoohl with a diploma and worked while going to scoohl. I was also able to start a scoohl with 2 other parents in 1981 and It is still existing and helping many children with special needs. I would never change anything we have gone through in the last 33 years. He was and is a great son,grandson,brother,nephew and friend. His 3 brothers always say how lucky they are to have Adam as their brother. Having a son or daughter born with Down Syndrome is not the end of the world,it is the beginning of a great challenge and experience that you will always be thankful for. I am lucky to have a son who would do anything for anyone.

    4
  • Chocho
    December 22, 2015
    0

    Cheryl MertzOctober 4, 2011Having a son born with Down Syndrome was a huge surprise,especially when I was 22 years old. Adam is now 33 years old and he is a great man. Graduated from High scoohl with a diploma and worked while going to scoohl. I was also able to start a scoohl with 2 other parents in 1981 and It is still existing and helping many children with special needs. I would never change anything we have gone through in the last 33 years. He was and is a great son,grandson,brother,nephew and friend. His 3 brothers always say how lucky they are to have Adam as their brother. Having a son or daughter born with Down Syndrome is not the end of the world,it is the beginning of a great challenge and experience that you will always be thankful for. I am lucky to have a son who would do anything for anyone.

    5
  • Chocho
    December 22, 2015
    0

    Cheryl MertzOctober 4, 2011Having a son born with Down Syndrome was a huge surprise,especially when I was 22 years old. Adam is now 33 years old and he is a great man. Graduated from High scoohl with a diploma and worked while going to scoohl. I was also able to start a scoohl with 2 other parents in 1981 and It is still existing and helping many children with special needs. I would never change anything we have gone through in the last 33 years. He was and is a great son,grandson,brother,nephew and friend. His 3 brothers always say how lucky they are to have Adam as their brother. Having a son or daughter born with Down Syndrome is not the end of the world,it is the beginning of a great challenge and experience that you will always be thankful for. I am lucky to have a son who would do anything for anyone.

    6
  • Gyulai
    December 22, 2015
    0

    Hi Rick Love your website and ptovsiie karma. Today I came across your T21 explained page. I was surprised to see you have described T21 as a chromosome abnormality . I recommend the following definition, a quote by Rose Mordi, Nigeria at the UN conference on World Down Syndrome Day:“Down syndrome is a naturally occurring chromosome arrangement that has always been part of the human condition.”…..naturally occurring. Not an abnormality. Not a disorder. Not ‘What’s wrong with him?” Not a 90% abortion rate.I have a naturally occurring chromosome arrangement that has always been part of the human condition. My life has just as much value as any other, including yours.Can you imagine a doctor walking in and saying, “Your baby has Down syndrome. Don’t worry though. Children have been born with Down syndrome since the beginning of time. Down syndrome is a naturally occurring chromosome arrangement that has always been part of the human condition. Your child will be blessed to be a member of an amazing population of people that make this world a better place to live in.”Something as simple as the language we use could change the perception of how the world views my child and so many other children.What a wonderful, wonderful world it would be.Thanks for everything Rick! http://egonwfrbx.com [url=http://bjslnoiq.com]bjslnoiq[/url] [link=http://eeghwmqch.com]eeghwmqch[/link]

    7
  • Gyulai
    December 22, 2015
    0

    Hi Rick Love your website and ptovsiie karma. Today I came across your T21 explained page. I was surprised to see you have described T21 as a chromosome abnormality . I recommend the following definition, a quote by Rose Mordi, Nigeria at the UN conference on World Down Syndrome Day:“Down syndrome is a naturally occurring chromosome arrangement that has always been part of the human condition.”…..naturally occurring. Not an abnormality. Not a disorder. Not ‘What’s wrong with him?” Not a 90% abortion rate.I have a naturally occurring chromosome arrangement that has always been part of the human condition. My life has just as much value as any other, including yours.Can you imagine a doctor walking in and saying, “Your baby has Down syndrome. Don’t worry though. Children have been born with Down syndrome since the beginning of time. Down syndrome is a naturally occurring chromosome arrangement that has always been part of the human condition. Your child will be blessed to be a member of an amazing population of people that make this world a better place to live in.”Something as simple as the language we use could change the perception of how the world views my child and so many other children.What a wonderful, wonderful world it would be.Thanks for everything Rick! http://egonwfrbx.com [url=http://bjslnoiq.com]bjslnoiq[/url] [link=http://eeghwmqch.com]eeghwmqch[/link]

    8
  • Gyulai
    December 22, 2015
    0

    Hi Rick Love your website and ptovsiie karma. Today I came across your T21 explained page. I was surprised to see you have described T21 as a chromosome abnormality . I recommend the following definition, a quote by Rose Mordi, Nigeria at the UN conference on World Down Syndrome Day:“Down syndrome is a naturally occurring chromosome arrangement that has always been part of the human condition.”…..naturally occurring. Not an abnormality. Not a disorder. Not ‘What’s wrong with him?” Not a 90% abortion rate.I have a naturally occurring chromosome arrangement that has always been part of the human condition. My life has just as much value as any other, including yours.Can you imagine a doctor walking in and saying, “Your baby has Down syndrome. Don’t worry though. Children have been born with Down syndrome since the beginning of time. Down syndrome is a naturally occurring chromosome arrangement that has always been part of the human condition. Your child will be blessed to be a member of an amazing population of people that make this world a better place to live in.”Something as simple as the language we use could change the perception of how the world views my child and so many other children.What a wonderful, wonderful world it would be.Thanks for everything Rick! http://egonwfrbx.com [url=http://bjslnoiq.com]bjslnoiq[/url] [link=http://eeghwmqch.com]eeghwmqch[/link]

    9

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