hi, i came across an interesting article so thot may just share w you guys, no offence intended. i hv not had an m/c but my sis and some frens did and when a fren told me she had this condition (after further testing after recurrent m/c), i thot it was interesting. so sharing w you all only.
Translocation Chromosome
What causes it?
The cause isn't understood but translocation is sometimes linked to exposure to radiation.
Depending on which bit of which chromosome is moved to where, it can result in a wide range of medical problems, such as leukaemia, breast cancer, schizophrenia, muscular dystrophy and Down's syndrome. Miscarriage may occur - in five per cent of cases of recurrent miscarriage one of the parent's chromosomes is found to have a balanced translocation.
Types and severity
Translocations may be balanced or unbalanced
Translocations may be balanced or unbalanced. For example, take a translocation of part of chromosome 21 on to chromosome 14 (the situation in about four per cent of people with Down's syndrome).
In a balanced translocation (found in the parent of an affected child), the person doesn't have any additional genetic material, they simply have a smaller than normal chromosome 21 with a piece broken off, a normal second chromosome 21, a chromosome 14 with the broken piece of 21 attached and a normal chromosome 14. So the person appears entirely healthy.
But when this person makes eggs or sperm there are several possibilities. The normal chromosomes 21 and 14 may be passed on, resulting in a healthy baby. Or the broken 21 and affected 14 may be passed on, resulting in a baby with translocations but no overall change in the amount of genetic material. This baby would be a carrier of the balanced translocation, just like its parent.
But if the normal 21 and the affected 14 (carrying material from the broken chromosome 21) are passed on, there's extra genetic material from chromosome 21 (as the baby will have one normal 21 from each parent as well as the broken piece attached to 14). The translocation becomes 'unbalanced' and Down's syndrome results.
There may be no symptoms from a translocation if it's balanced. Alternatively, if it's unbalanced, it may cause problems incompatible with life, leading to miscarriage of an affected foetus or other major health problems, depending on which chromosome has been translocated.
Who's affected?
One person in 500 is thought to carry a chromosome translocation. In many cases, these are balanced translocations. Unbalanced translocations may account for one in 20 cases of recurrent miscarriage.
How's it diagnosed?
Chromosomal analysis can rapidly reveal a translocation. Antenatal testing may be done using CVS (chorionic villus sampling) or amniocentesis, or pre-implantation genetic diagnosis when a parent is known to carry a balanced translocation.
This article was last medically reviewed by Dr Rob Hicks in July 2006.