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Sunday, May 19, 2013
Inherited Disorders and Birth Defects
Chromosome 18 `a bit in upside down`
My son and daughter in law have been undergoing IVF unsuccessfully. My son has now been told he has a small defect on chromosome 18 that can lead to repeated miscarriage as well as some sperm problems. He was 6/52 prem, was late walking and talking, had hypospadias but is otherwise fine. He is 38 and a bank manager. Are there likely to be any other health problems that he needs to be aware of - they have been advised to have donor insemination and that they do not need further genetic input.
Abnormalities of chromosomes such as chromosome 18 can lead to problems such as birth defects (for example hyposadius) and problems with development. From your description, the types of problems your son has had have been minor. Also, chromosome problems can lead to an increase risk for infertility and / or miscarriages. Using donor sperm and undergoing insemination is a way to avoid these types of problems.
It would be necessary to know exactly what the problem is with chromosome 18 before a geneticist could say if your son is at an increased risk for additional health problems. If your son has questions about this, I would highly recommend that he and his wife talk to a geneticist or genetic counselor if they have not already done so. They can locate a genetics clinic near them at the National Society of Genetic Counselors’ Resource Center at the website below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University