Uta Francke

Publication Details

  • THE PENTA-X SYNDROME JOURNAL OF MEDICAL GENETICS Monheit, A., FRANCKE, U., Saunders, B., LYONSJONES, K. 1980; 17 (5): 392-396


    A child is presented with a 49,XXXXX chromosomal constitution bringing to 12 the total number of children described with this karyotype. Comparison of this child's features with previously reported cases indicates a clinically recognisable specific pattern of malformations referred to as the penta-X syndrome. X chromosome replication studies using BrdU labelling in the patient's cells clearly showed that the four presumably inactive X chromosomes were late replicating but not in a strictly synchronous fashion.

    View details for Web of Science ID A1980KL11800014

    View details for PubMedID 7218280

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