Cytogenetic and Genome Research · 1967 · 46 citations · 0 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsPediatric GeneticsChromosomal AbnormalitiesChromosomal DisordersChromosome AberrationsGenetic DisordersMolecular CytogeneticsNumerical Chromosome AbnormalitiesConstitutional Chromosome AbnormalitiesCytogenetic AbnormalitiesEmbryologic MalformationsFibroblast CultureKaryotypic AbnormalitiesNumerical Chromosomal AbnormalitiesSex Chromatin AnalysisSex Chromosome Abnormalities
An 11-month-old boy is described with severe developmental retardation, colobomata of both eyes, peculiar facies, syndactylies of the fingers and multiple minor malformations. Lymphocyte cultures showed the karyotype 48, XXYY, whereas, a skin fibroblast culture gave a mixture of diploid and triploid cells with the karyotypes 48, XXYY and 71,XXXYY respectively. In the triploid cell line only one of the three X chromosomes is allocyclic, as demonstrated by H<sup>3</sup>-TdR labeling and by sex chromatin studies.