SULM – Schweizerische Union für Labormedizin | Union Suisse de Médecine de Laboratoire | Swiss Union of Laboratory Medicine

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B Röthlisberger1 , M Fischer1 , R Huber2 , A Capone2 , M Hergersberg1 , AR Huber1

1Kantonsspital Aarau, Zentrum für Labormedizin, Aarau, Switzerland, 2Kantonsspital Aarau, Kinderklinik, Aarau, Switzerland

We report a case of a 29 months old boy with growth retardation, microcephaly, minor facial anomalies, mental retardation, cerebral atrophy, cerebral ventricular dilatation, hypotonia and pes equinovarus. Conventional cytogenetics showed the presence of additional material on the long arm of chromosome 4. Since at the time of diagnosis blood of the parents could not be obtained, 24-colour-FISH (fluorescence in situ hybridization) was performed and it could be demonstrated, that the additional chromosomal material originates from chromosome 12. After revealing this result to the parents their blood could be collected, and, by conventional cytogenetics a balanced chromosome translocation between the long arm of chromosome 4 and the long arm of chromosome 12 was found in the father. Therefore the karyotype in the patient can be described as following: 46,XY,der(4)t(4;12)(q35;q24.2)pat.
We compare the phenotype of our patient with previous reports of patients with partial duplication of the long arm of chromosome 12 and with subtelomeric deletions of the long arm of chromosome 4. Our investigation provides further information for a better clinical delineation of these two chromosomal aberrations.


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