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Sunday, April 20, 2014
Inherited Disorders and Birth Defects
Flipped chromosones and Lupus
My girlfriend has a flipped chromosone #7 and Lupus. What are the chances of having a healthy child, and what precautions need to be taken before, during and after the pregnancy. She has miscarried 4 times already and we have been told the baby can`t stick to the walls. I am fit and healthy and have no genetic defects. Please shed some light on this. Thankyou
A "flipped" seventh chromosome may be referring to what is known as an inversion of chromosomal material. There are 46 chromosomes in every cell of the body. If a chromosome or piece of a chromosome is missing or duplicated, this leads to missing or extra genes. When a person has missing or extra genes, problems can develop for that person's health and development.
Each chromosome has a short arm = p (petit) and a long arm = q (next letter in the alphabet). In some chromosomes the arms are pretty equal in length, in other chromosomes (like 13, 14, and 15) the p arms are very small. In pictures (a karyotype), the p arm is always on top and the q arm is always on the bottom. The arms are separated by an area called the centromere, which is a pinched area of the chromosome.
An inversion happens when there are two breaks in one chromosome. The area between the breaks is inverted (turned around or flipped). This flipped chromosomal material is then reinserted and the areas of the breaks unite to the rest of the chromosome. If the inverted area includes the centromere it is called a pericentric inversion. If it does not, it is called a paracentric inversion.
Inversions may not cause any problems; however, if a parent has an inversion there is an increased chance for any child to receive an incorrect amount of genetic material - too little or too much - when the parent forms eggs or sperm. So a "flipped" chromosome #7 can lead to a loss of genes and this can lead to an increased chance of miscarriage or babies with birth defects and/or abnormal development. It would be important to know exactly where on chromosome 7 the inversion is as well.
Also, having lupus can also lead to an increase chance of miscarriage.
If she has not already done so, I would recommend that your girlfriend speak to a geneticist or genetic counselor to discuss these issues in detail. This is an area that they have a great deal of expertise. You can locate a genetics center near you at the National Society of Genetic Counselors' website
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University