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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What does this genetic report indicate?

If a finalised genetic report states that a baby has trisomy 21, and the more detailed type is called a balanced Robertsonian translocation, with a rearrangement of the genetic arm between chromosome 14 and chromosome 21, does this then mean that the baby is physically and mentally healthy or would baby have severe limitations? Is it possible for baby to have balanced Rob and still have severe Down Syndrome?
Fri, 15 Mar 2019
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Internal Medicine Specialist 's  Response
Hello,

Robertsonian translocation is a chromosomal abnormality where a certain type of a chromosome becomes attached to another.

It is the most common form of chromosomal translocation in humans, affecting 1 out of every 1,000 babies born.

It does not usually cause health difficulties, but can in some cases result in genetic disorders such as down syndrome and patau syndrome.

Hope I have answered your query. Let me know if I can assist you further.

Take care

Regards,
Dr Penchila Prasad Kandikattu , Internal Medicine Specialist
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