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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1980 Oct;17(5):392–396. doi: 10.1136/jmg.17.5.392

The penta-X syndrome.

A Monheit, U Francke, B Saunders, K L Jones
PMCID: PMC1048607  PMID: 7218280

Abstract

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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