Five cases of prenatally diagnosed sex chromosome mosaicism |
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| Authors: | G Nocera L Dalpra M G Tibiletti M Buscglia |
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| Institution: | 1. Laboratorio di Citogenetica, III Clinica Ostetrica e Ginecologica, Università di Milano, Via M. Melloni 52, 20129 Milano. Italy;2. Unità di Medicina Preventiva Perinatale. I Clinica Ostetrica e Ginecologica. Università di Milano. Italy |
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| Abstract: | Prenatal detection of chromosome mosaicism is a relatively rare phenomenon and always constitutes a diagnostic problem. The difficulties are much more when the mosaics involve the sex chromosomes, because of the large phenotypic variability in individuals with these abnormalities. We studied 5 cases of true mosaics, 4 of these were prenatally detected, while 1 case was revealed only in the fetal lymphocytes after induced abortion. The limits of amniotic fluid culture with regard to the diagnosis of true mosaics and the difficulties arising in genetic counselling are discussed. |
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| Keywords: | Prenatal diagnosis Chromosome mosaicism Genetic counselling |
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