We report on the clinical and cytogenetic data of a large family with an unbalanced insertion translocation (3;5)(q25.3;q22.1q31.3). Analysis of GTG-banded chromosomes demonstrated that unbalanced inheritance of a parental insertion translocation caused either a partial deletion or duplication 5q in this family. The derivative chromosomes were characterized further using microdissection and FISH with band-specific probes. The clinical picture of the proband with a partial deletion of chromosome 5 was characterized by moderate psychomotor retardation, mild facial dysmorphism, cleft palate, and single transverse crease. The family members with a partial duplication of chromosome 5 were borderline intelligent, had mild facial dysmorphism, a cardiac anomaly, and a high-pitched voice. The unbalanced carriers were compared with patients reported in the literature with a duplication or deletion of chromosome region 5q22.1 → 5q31.3.

dx.doi.org/10.1002/ajmg.a.20568, hdl.handle.net/1765/59207
American Journal of Medical Genetics. Part A
Department of Clinical Genetics

Arens, Y.H.J.M, Engelen, J, Govaerts, L.C, van Ravenswaaij-Arts, C.M.A, Loneus, W.H, van Lent-Albrechts, J.C.M, … Schrander-Stumpel, C.T.R.M. (2004). Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers. American Journal of Medical Genetics. Part A, 130 A(2), 128–133. doi:10.1002/ajmg.a.20568