Balkan Journal of Medical Genetics

DOUBLE TRANSLOCATION: AN INTERESTING FAMILY HISTORY
Uysal A1,*, Uludağ A2, Sılan F2, Erçelen N3, Zafer C4, Özdemir Ö2
*Corresponding Author: Assistant Professor Ahmet Uysal, Department of Obstetrics and Gynecology, Çanakkale Onsekiz Mart University, Çanakkale, Turkey; Tel.: +90-533-263-55-40; Fax: +90-0286-263-59-56; E-mail: drahmetuysal@hotmail.com
page: 77

DISCUSSION

Individuals who are carriers of balanced chromosome irregularities may have it packaged differently, but still have all their genetic information. For this reason, balanced reciprocal and Robertson-type translocation carriers are phenotypically normal, however they have a significant increased risk of unbalanced gamete production and abnormal progeny [4,5]. Our patient, together with other family members carrying anomalies, was phenotypically normal. Our male proband’s mother and sister, both carriers, had repeated miscarriages. In pregnancies of chromosomal translocation-carrying couples, if an embryo with a chromosomal make-up incompatible with life (e.g., autosomal monosomy), miscarriage, intrauterine fetal death or still-birth may occur. Embryos with unbalanced chromosomal make-up compatible with life may result in a baby with congenital anomalies at birth, birth of a balanced trans-location carrier of normal phenotype (similar to the parents) or birth of a chromosomally normal, completely healthy baby [5]. Due to risk of unbalanced chromosomal anomalies compatible with life or of a fetus with congenital anomalies, pregnancies of balanced translocation carriers which do not end in miscarriage are indicated for amniocentesis and chromosome analysis. However, as with our patient, translocation carriers may not be identified if pregnancies end very early, even though it may be the cause of sterility or infertility due to miscarriage. The success rate of IVF before PGD is low. For translocation carriers, assisted reproduction techniques combined with PGD, increase the probability of viable pregnancy [2,4,5]. Double balanced translocations are particularly rare and the risk of a fetus with unbalanced chromosomal anomaly is greater than for single translocation carriers [5,6]. In the family presented here, the interesting point is that though the two siblings with double translocation were infertile, their mother, with the same double translocation, had three healthy children, only two miscarriages and no complaint of infertility. Balanced chromosomal translocations have a frequency of 0.3% in the general population. Similar studies on couples with spontaneous miscarriages found a frequency of 4.03% for balanced translocations, much greater than that of the general population. It is thought that in addition to being an important cause of abortus, balanced translocations increase the frequency of total chromosome irregularities in offspring (7.63%), and is an important etiologic factor in spontaneous abortions, stillbirth and malformations at birth [1,3,4,5]. In conclusion, we believe that couples with recurrent spontaneous abortions, together with infertile couples, should be advised to have chromosome analysis.

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