Cytogenetics and Cell Genetics · 2008 · 26 citations · 0 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsMedical GeneticsChromosomal AbnormalitiesChromosomal DisordersChromosomal TranslocationsGenetic DisordersStructural Chromosome AbnormalitiesTurner SyndromeDeletionsInherited Chromosomal DisordersInherited Chromosomal TranslocationsParental Chromosomal AbnormalitiesStructural Chromosome RearrangementsTranslocation SyndromesTurner Syndrome CytogeneticsTurner Syndrome Genetics
A t(X;Y)(p223;q11) was studied in a mother and son who share features of Turner's syndrome (short stature, mild brachymesomelia, unusual dermatoglyphics) as well as mental deficiency. In the majority of the mother's cells the extra chromosome is late replicating. Ten previous cases are summarized, and the significance of Xp deletions is discussed.