Which disease is caused by a translocation between chromosomes 14 and 21?
Which disease is caused by a translocation between chromosomes 14 and 21?
The genetic material from the extra 21 chromosome is what causes the health problems that are caused by Down syndrome. In translocation Down syndrome, the extra 21 chromosome may be attached to the 14 chromosome, or to other chromosome numbers like 13, 15, or 22.
Does translocation cause Down syndrome?
If a parent has balanced translocation, there is an up to 15% chance of having another child with Down Syndrome.
Can you get pregnant with balanced translocation?
BALANCED TRANSLOCATION AND RECURRENT MISCARRIAGE Natural conception and live birth is possible in cases of balanced translocation, but those with the condition may have more difficulty conceiving and are at a greater risk of recurrent miscarriage than those without it.
What is the karyotype for Down syndrome with 14 21 translocation?
Translocation karyotype for Down syndrome with 14/21 Robertsonian translocation. Notice the three copies of 21q (two chromosomes 21 and the long arm of chromosome 21 fused to the short arm of a chromosome 14). The extra chromosome 21 material that causes Down syndrome may be due to a Robertsonian translocation.
What is the balanced translocation of chromosomes 14 and 21?
Translocation. The balanced translocation figure shows a 14/21 translocation between the long arms of chromosomes 14 and 21, where the other chromosomes are not shown. The individual has two copies of everything on chromosome 14, and two copies of all of the material on the long arm of chromosome 21 (21q).
What is the difference between Robertsonian translocations and Normal karyotypes?
Furthermore, while men with a normal karyotype had an average of 40% progressive sperm motility, men with Robertsonian translocations only had 22% progressive motility. While Robertsonian translocations can be associated with abnormal semen analysis parameters, patients are more concerned with birth rates.
What is the carrier status for balanced translocations in Down syndrome?
The carrier status for balanced translocations for both parents were identified by peripheral blood karyotype and was found to be have normal karyotype. Conclusions: Translocation in Down syndrome is usually of Robertsonian type with fusion of chromosome 21 to D or G group chromosome. Most frequent forms are t (14;21) and t (21;21).