Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1)

Czakó, Márta; Riegel, Mariluce; Morava, Eva; Schinzel, Albert; Kosztolányi, György

doi:10.5167/uzh-204444

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Czakó, M., Riegel, M., Morava, E., Schinzel, A., & Kosztolányi, G. (2002). Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1). American Journal of Medical Genetics, 108, 226–228. https://doi.org/10.1002/ajmg.10243

Abstract

A girl with psychomotor retardation and a pattern of minor anomalies was found to have a slightly enlarged short arm of chromosome 18 by conventional GTG-banded chromosome examination. The 18p+chromosome has also been found in the father. FISH studies using chromosome 18-and chromosome 20-specific painting probes confirmed a reciprocal whole arm translocation between chromosomes 18 and 20 in the father, resulting in monosomy of the short arm of chromosome 18 and trisomy of the short arm chromosome 20 in the patient. FISH analysis usin