What is Robertsonian translocation Down syndrome?

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What is Robertsonian translocation Down syndrome?

What is Robertsonian translocation Down syndrome?

The Robertsonian translocation is unbalanced and the baby has three copies of the long arm of chromosome 21 instead of two. This causes a type of Down's syndrome called translocation Down's syndrome. The effects on the baby are exactly the same as when Down's syndrome is caused by having an extra entire chromosome 21.

What defines a Robertsonian translocation?

A Robertsonian translocation is one in which, effectively, the whole of a chromosome is joined end to end with another. This type of translocation involves only chromosomes 13, 14, 15, 21 and 22, because the ends of their short arms have similar repetitive DNA sequences that predispose to their fusion.

What is Robertsonian translocation give example?

A Robertsonian translocation results when the long arms of two acrocentric chromosomes fuse at the centromere and the two short arms are lost. If, for example, the long arms of chromosomes 13 and 14 fuse, no significant genetic material is lost—and the person is completely normal in spite of the translocation.

What is translocation Down syndrome?

Translocation Down syndrome refers to the type of Down syndrome that is caused by rearranged chromosome material. In this case, there are three # 21 chromosomes, just like there are in trisomy 21, but one of the 21 chromosomes is attached to another chromosome, instead of being separate.

Can you get pregnant with Robertsonian translocation?

A monosomy is a genetic alteration in which one half of a chromosome pair is missing. Robertsonian translocations can result in pregnancies that carry monosomy 14 and monosomy 21. Both are considered nonviable.

Can people with Robertsonian translocation have kids?

Many people with Robertsonian translocation have healthy children. The condition can, however, impact on their chances of having a family. Women with the translocation may find it difficult to get pregnant. They also have a higher chance of having a miscarriage than those without Robertsonian translocation.

Is Robertsonian translocation inherited?

Robertsonian translocation is a genetic disorder. People inherit it from their parents with the mother or father passing it to a child in their genes.

Is translocation Down syndrome worse?

People with translocation Down syndrome still share the same health issues and learning problems with people with other types of Down Syndrome. Without doing a blood test, it is not possible to tell the difference between people with translocation Down syndrome and people with other types of Down Syndrome.

How do you know if you are a carrier of Down syndrome?

A carrier will have the extra material but will have only one chromosome 21. The carrier will not exhibit any of the symptoms of Down syndrome because they have the correct amount of genetic material.

How is Robertsonian translocation detected?

Robertsonian translocation type trisomy 13 can be detected by prenatal diagnosis technology, which inclue molecular cytogenetics and traditional karyotype analysis. Different diagnosis technologies have to be clearly distinguished and correctly applied.

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