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Saturday, July 23, 2016
Inherited Disorders and Birth Defects
I have been diagnosed with a balanced translocation between the long arms of chromosomes 13 and 14. The short arms have apparently been lost. The Paris conference nomenclature is: 45, XY, t(13q:14q).
Can you please tell me if this type of translocation is common and what if any ailments it may produce? Thank you.
The type of balanced translocation you have is called a Robertsonian translocation - where 2 acrocentric chromosomes (chromosomes # 13, 14, 15, 21 and 22) have lost the tiny short arms of the chromosome and the two longer arms have fused.
The most common Robertsonian translocations are between chromosomes #13 and 14 and # 14 and 21. In a review of the literature, the 13q14q balanced translocation you have is the most common. It has been estimated that about 1 in 1,300 people have this type of Robertsonian translocation.
Anyone with a balanced Robtertsonian translocation should not have any health problems since all the chromosomal material needed is present and functioning properly. However, when a person with a balanced chromosomal rearrangement forms eggs or sperm, some of the chromosomal material can be lost or duplicated so that there is extra and/or missing genetic information - in this specific case, either having a whole extra chromosome 13 or 14 or missing a chromosome 13 or 14. This leads to miscarriage in almost all cases. However, in a very small percentage of pregnancies where there is an extra chromosome 13, it could result in a live birth.
This baby would have multiple birth defects and mental retardation. Babies with an extra chromosome 13 usually do not live for very long.
I would highly recommend that you speak to a genetic counselor or geneticist to discuss this in detail and what it means regarding your future children. You can locate a genetics center near you at the National Society of Genetic Counselors' resource website listed below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University