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Inherited Disorders and Birth Defects

Translocated chromosome

09/05/2006

Question:

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. 

Answer:

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.

Related Resources:

National Society of Genetic Counselors Resource Center

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Response by:

Anne   Matthews, RN, PhD Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University