Balkan Journal of Medical Genetics

PRENATAL DIAGNOSIS OF A NEW CASE: DE NOVO BALANCED NON-ROBERTSONIAN TRANSLOCATION INVOLVING t(15;22)(p11.2;q11.2)
Atli Eİ, Gurkan H, Atli E, Tozkir H, Varol GF, İnan C
*Corresponding Author: Emine İkbal Atli, Ph.D., Department of Medical Genetics Faculty of Medicine Trakya University, Edirne, Turkey. Tel: +90-554-253-40-30. Fax: +90-284-223-33-14. Email: emine.ikbal@ gmail.com
page: 69

DISCUSSION AND CONCLUSIONS

De novo structural chromosome rearrangements will be considered in three major categories: apparently balanced rearrangements, including reciprocal translocations, ROB and inversions. Apparently unbalanced rearrangements. Small supernumerary chromosomes. The finding of an apparently balanced de novo chromosome rearrangement in amniocytes poses a counseling dilemma. A significant excess of all balanced de novo rearrangements (about eight times the newborn incidence) was observed in individuals with intellectual deficiency. For each 10,000 invasive prenatal genetic process, six to nine cases with a de novo balanced rearrangement and four to nine cases with a de novo unbalanced rearrangement may be expected [2]. Non-Robertsonian translocation involving acrocentric chromosomes is a rare event, and only a few cases have been reported. In the present study, we observed acrocentric chromosomes 15 and 22 as a rare balanced non-ROB, where satellites of chromosome 15 translocated to chromosome 22 and part of chromosome 22 was translocated to chromosome 15. Mangelschots et al. [3] reported a case with 46,XX,t(13;15)(q12;q13) where she gave birth to a child with karyotype 46,XX,+13,+der(15)t(13;15)(q12; q13)mat. Most of the ROBs are balanced in relation to acrocentric chromosomes with the breakpoints (q10; q10). Rupa et al. [4] described a couple, 35-year-old wife and 37-year-old husband, with the history of two miscarriages and one congenitally abnormal fetus. The couple was physically and intellectually normal. Chromosome analysis revealed normal male karyotype in the husband, whereas the female showed a balanced reciprocal trans-location as 46,XX,t(13;15)(p11.2;q22.1). Frikha et al. [5] reported a familial non-ROB between the long arm of chromosome 15 and the long arm of chromosome 21 with 46,XY,t(15;21) (q21;q21) in an infertile man and his hypo-fertile brother whose wife had a history of repeated pregnancy loss. Only the nuchal fold thickness increase was reported in the prenatal period of our case. Balanced reciprocal translocations are generally harmless rearrangements for the carriers, however, the derivative chromosomes and their matching homologous form a quadrivalent parent at meiosis I and 2:2, 3:1, and 4:0 segregation models yield in most cases of unbalanced gametes [6,7]. To the best of our knowledge, our proband is the first and unique case reported in the literature for this translocation in both prenatal and postnatal periods. In conclusion, in the couples with abnormal fetal sonography findings, cytogenetic analyses and chromosome-specific FISH paintings should be performed in the prenatal period. While providing genetic counseling, pre implantation genetic diagnosis could be suggested.

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