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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- 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]
- 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]
- 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]
- 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]
- Izakovic V., Lukácová M. Short stature and karyotype of mitotic cells in women. Endokrinologie. 1972 Feb;59(2):265–268. [PubMed] [Google Scholar]
- 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]
- 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]
- 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]
- 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]
- 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]
- 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]
- 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]
- 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]