PubMed · 2009 · 12 citations · 0 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsMedical GeneticsAneuploidyChromosomal AbnormalitiesChromosomal DisordersMosaicismNumerical Chromosome AbnormalitiesTurner SyndromeAneuploid MosaicismChromosomal MosaicismMosaic Turner SyndromePhenotypic MosaicismSex Chromosome Aneuploidy DisordersShort Stature GeneticsTurner Syndrome CytogeneticsTurner Syndrome Genetics
The occurrence of double aneuploidy is a relatively rare phenomenon. We report on a 17-year-old woman with short stature, minimal pubic and axillar hair and short hands. In cultured lymphocyte a double aneuploidy mosaicism was detected, consisting of a cell line with trisomy for X chromosome and a cell line with monosomy for the X-chromosome and no cell line with a normal karyotype. To our knowledge, this is the first case of mosaic 45,X/47,XXX in Turkey.