X pentasomy: A case and review

@article{Archidiacono2004XPA,
  title={X pentasomy: A case and review},
  author={N. Archidiacono and M. Rocchi and M. Valente and G. Filippi},
  journal={Human Genetics},
  year={2004},
  volume={52},
  pages={69-77}
}
SummaryA 49,XXXXX girl is reported. The most typical features of the patient are: severe mental retardation, serious dental anomalies, various anomalies of the bones, and a high rate of gonadotropins. The few similar cases so far described are reviewed to aid in delineation of this rare syndrome. The implications of Lyon's hypothesis on X-aneuploidies are also discussed. 
11 Citations
A case report of prenatal diagnosis of PentaX Syndrome in association with isolated borderline ventriculomegaly
Pentasomy X and hyper IgE syndrome: co-existence of two distinct genetic disorders
A New Case of Prenatally Diagnosed Pentasomy X: Review of the Literature
Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy
Kinetics of DNA replication in a dicentric X chromosome formed by long arm to long arm fusion
...
1
2
...

References

SHOWING 1-10 OF 44 REFERENCES
Epiphysial dysplasia: a constant finding in the XXXXY syndrome.
A female child with five X chromosomes.
A PHENOTYPIC FEMALE WITH 49 CHROMOSOMES, PRESUMABLY XXXXX. A CASE REPORT.
Taurodontism and enamel hypomaturation associated with X‐linked abnormalities
  • J. Gage
  • Biology, Medicine
  • Clinical genetics
  • 1978
Abnormal X chromosomes in man: Origin, behavior and effects
The influence of inactive chromosomes on human development
...
1
2
3
4
5
...