Tandem duplication 11q23-ter in the dysmorphic child of a retarded mother mosaic for the same anomaly with no apparent abnormalities.
The authors report a dysmorphic child with a duplication dir (11)(23-ter) the mildly retarded mother of which is a mosaic for the same abnormality. Similar partial trisomies from the literature all associated with a deficiency of any other autosome are reviewed. While a general karyotype-phenotype correlation is not stringent the patients share many dysmorphic features.
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Institut für Humangenetik, Friedrich-Alexander Universität Erlangen-Nürnberg, Germany.
Schütz
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D000328:Adult; D002880:Chromosomes, Human, Pair 11; D005146:Facial Asymmetry / Q000151:congenital / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy; D014314:Trisomy