Skip to main content
PMC home page
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.

Full text

PDF
393

Images in this article

392Image
on p.392
393Image
on p.393
394Image
on p.394
396Image
on p.396

Selected References

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

  1. Brody J., Fitzgerald M. G., Spiers A. S. A female child with five X chromosomes. J Pediatr. 1967 Jan;70(1):105–109. doi: 10.1016/s0022-3476(67)80172-0. [DOI] [PubMed] [Google Scholar]
  2. Cooke P., Black J. A., Curtis D. J. Comparative clinical studies and X chromosome behaviour in a case of XXXX-XXXXX mosaicism. J Med Genet. 1972 Jun;9(2):235–238. doi: 10.1136/jmg.9.2.235. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Giovannucci-Uzielli M. L., Torricelli F., Salvatori Q., Consumi I., Donzelli G. P., Seminara S. Corredo cromosomico 49, XXXXX in una bambina con ipoevolutismo psicofisico. Minerva Pediatr. 1975 Dec 29;27(40):2220–2229. [PubMed] [Google Scholar]
  4. Gordon D. L., Paulsen C. A. Premature menopause in XO-XX-XXX-XXXXX mosaicism. Am J Obstet Gynecol. 1967 Jan 1;97(1):85–90. doi: 10.1016/0002-9378(67)90597-2. [DOI] [PubMed] [Google Scholar]
  5. Izakovic V., Lukácová M. Short stature and karyotype of mitotic cells in women. Endokrinologie. 1972 Feb;59(2):265–268. [PubMed] [Google Scholar]
  6. KESAREE N., WOOLLEY P. V., Jr A PHENOTYPIC FEMALE WITH 49 CHROMOSOMES, PRESUMABLY XXXXX. A CASE REPORT. J Pediatr. 1963 Dec;63:1099–1103. doi: 10.1016/s0022-3476(63)80190-0. [DOI] [PubMed] [Google Scholar]
  7. Latt S. A., Willard H. F., Gerald P. S. BrdU-33258 Hoechst analysis of DNA replication in human lymphocytes with supernumerary or structurally abnormal X chromosomes. Chromosoma. 1976 Aug 17;57(2):135–153. doi: 10.1007/BF00292912. [DOI] [PubMed] [Google Scholar]
  8. Mulcany M. T., Stevens J. B. Letter: Pentasomy of X chromosome. Lancet. 1975 Dec 13;2(7946):1213–1214. doi: 10.1016/s0140-6736(75)92707-5. [DOI] [PubMed] [Google Scholar]
  9. Ricci N., Dallapiccola B., Ventimiglia B., Tiepolo L., Fraccaro M. 48,XXXX-49,XXXXX mosaic: asynchronies among the late-replicating X chromosomes. Cytogenetics. 1968;7(4):249–259. doi: 10.1159/000129989. [DOI] [PubMed] [Google Scholar]
  10. Sergovich F., Uilenberg C., Pozsonyi J. The 49,XXXXX chromosome constitution: similarities to the 49,XXXXY condition. J Pediatr. 1971 Feb;78(2):285–290. doi: 10.1016/s0022-3476(71)80013-6. [DOI] [PubMed] [Google Scholar]
  11. Tumba A., Fryns J. P., van OOTEGHEM G., van den Berghe H. Le syndrome 49, XXXXX: à propos d'un nouveau cas. Union Med Can. 1977 Feb;106(2):226–230. [PubMed] [Google Scholar]
  12. Yamada Y., Neriishi S. Penta X (49,XXXXX) chromosome constitution: a case report. Jinrui Idengaku Zasshi. 1971 Aug;16(1):15–21. [PubMed] [Google Scholar]
  13. Zajaczkowska K., Korniszewski L., Wolff-Plodowska A. A case of quintuple-X syndrome (49,XXXXX). J Ment Defic Res. 1970 Dec;14(4):305–311. doi: 10.1111/j.1365-2788.1970.tb01129.x. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES