Familial Robertsonian 13;14 Translocation With Mental Retardation and Epilepsy

Abstract

Familial reports of a robertsonian translocation in more than two generations are rare. We report three generations (a daughter, the mother, and the mother's father) with a heterozygous, balanced robertsonian translocation t(13;14)(q11;q11). Central nervous system disease was present, but differentially expressed, in generations I and III. The daughter presented with mental delay and epilepsy, and the mother was apparently healthy, whereas the mother's father was again symptomatic, with borderline intelligence. Fluorescent in situ hybridization analysis was performed to exclude a loss or gain of chromosomal material. No uniparental disomy was present. We concluded that genetic counseling in the presence of this rearrangement was extremely difficult, independent of the affected parent being symptomatic or asymptomatic. (J Child Neurol 2006;21:531—533; DOI 10.2310/7010.2006.00098).

Get full access to this article

View all access options for this article.

References

Opitz JM , Shapiro SS , Uehling DT : Genetic causes and workup of male and female infertility. Postgrad Med 1979;65:157—162.

Funderburk SJ , Spence MA , Sparkes RS : Mental retardation associated with “balanced” chromosome rearrangements. Am J Hum Genet 1977;29:136—141.

Wang JC , Passage MB , Yen PH , et al: Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 robertsonian translocation carrier. Am J Hum Genet 1991;48:1069—1074.

Gardner Rjm , Sutherland GR : Chromosome Abnormalities and Genetic Counselling, 2nd ed. Oxford, UK, Oxford University Press, 1996.

Wenger SL , Steele MW , Boone LY , et al: “Balanced” karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents. Am J Med Genet 1995;55:47—52.

Pramparo T. , Gregato G. , De Gregori M , et al: Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male. Am J Med Genet 2003;123:79—83.