Journal of Medical Genetics · 1992 · 86 citations · 20 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsMedical GeneticsChromosomal AbnormalitiesChromosome MappingIn Situ HybridizationMolecular CytogeneticsMosaicismNumerical Chromosome AbnormalitiesChromosome Marker IdentificationSmall Supernumerary Marker Chromosomes
Fifteen patients presenting with mosaic or non-mosaic karyotypes containing a distamycin-DAPI negative de novo or familial supernumerary marker chromosome were studied with non-isotopic in situ hybridisation using a library of alphoid centromere specific and satellite II/III probes. The in situ hybridisation studies showed that seven markers were derived from satellited autosomes (three chromosome 13/21, two chromosome 14, two chromosome 22), six from non-satellited autosomes (two chromosome 4, one chromosome 12, one chromosome 16, two chromosome 19), and one from the Y chromosome. One non-mosaic marker was negative for all the alphoid and satellite II/III probes used.
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Forty four probands with an additional ?marker? chromosome
K.E. Buckton, G. Spowart, M. S. NEWTON et al. · Human Genetics · 1985 · 230 citations
Albert Schinzel, Werner Schmid, M. Fraccaro et al. · Human Genetics · 1981 · 206 citations · Full text
Maternal uniparental disomy for chromosome 14.
I. Karen Temple, Annette E. Cockwell, Terry Hassold et al. · Journal of Medical Genetics · 1991 · 202 citations · Full text