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. 1997 Mar;34(3):246–249. doi: 10.1136/jmg.34.3.246

Karyotype 69,XXX/47,XX,+15 in a 2 1/2 year old child.

J Dean 1, G Cohen 1, J Kemp 1, L Robson 1, V Tembe 1, J Hasselaar 1, B Webster 1, A Lammi 1, A Smith 1
PMCID: PMC1050902  PMID: 9132499

Abstract

We present the clinical findings in a 2 1/2 year old girl with an unusual mosaic karyotype. Amniocentesis was performed at 35 weeks because of intrauterine growth retardation. The in situ cultures showed 47,XX,+15 in seven colonies, 69,XXX in four colonies, and in two colonies 46,XX was detected. Subcultures showed 69,XXX/47,XX,+15 with no normal cells. A small dysmorphic baby was born at term. Cytogenetic studies were performed on cord blood, amnion, and placental tissue immediately after birth and further studies on peripheral blood, bone marrow, muscle biopsy, and skin cultures at 1 1/2 years of age. FISH with two autosomal centromeric probes was performed on the peripheral blood sample. A normal cell line could not be seen in any postnatal tissue by either technique. The predominant cell line postnatally was 69,XXX. There were no cytogenetic polymorphisms and the parental origin of the different cell lines was not determined. Marked red cell macrocytosis of peripheral blood was noted on routine blood count. Bone marrow aspiration showed megaloblastic haemopoiesis without evidence of vitamin B12 or folate deficiency. At 2 1/2 years, the patient has significant developmental problems.

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Selected References

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  1. Eiben B., Hansen S., Goebel R., Hammans W. Tissue-specific 45,X0/47,XY,+13 mosaicism in an 18-year-old woman. Hum Genet. 1989 Jul;82(4):391–392. doi: 10.1007/BF00274005. [DOI] [PubMed] [Google Scholar]
  2. Fryns J. P., Kleczkowska A., Lagae L., Kenis H., van den Berghe H. A specific phenotype associated with trisomy 15 mosaicism. Ann Genet. 1993;36(2):129–131. [PubMed] [Google Scholar]
  3. Gilbertson N. J., Taylor J. W., Kovar I. Z. Mosaic trisomy 16 in a live newborn infant. Arch Dis Child. 1990 Apr;65(4 Spec No):388–389. doi: 10.1136/adc.65.4_spec_no.388. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Green A. J., Barton D. E., Jenks P., Pearson J., Yates J. R. Chimaerism shown by cytogenetics and DNA polymorphism analysis. J Med Genet. 1994 Oct;31(10):816–817. doi: 10.1136/jmg.31.10.816. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Igarashi M., Tsukahara M., Sugio Y., Katayama K., Kajii T. 46,X,i(Xq)/47,XX,+13 mosaicism. Ann Genet. 1985;28(4):241–244. [PubMed] [Google Scholar]
  6. Jansen S., Kruger A. J., Liebenberg G. Turner/Down mosaicism. A case report. S Afr Med J. 1991 Jun 15;79(12):731–732. [PubMed] [Google Scholar]
  7. Kalousek D. K., Dill F. J. Chromosomal mosaicism confined to the placenta in human conceptions. Science. 1983 Aug 12;221(4611):665–667. doi: 10.1126/science.6867735. [DOI] [PubMed] [Google Scholar]
  8. Lindor N. M., Jalal S. M., Thibodeau S. N., Bonde D., Sauser K. L., Karnes P. S. Mosaic trisomy 16 in a thriving infant: maternal heterodisomy for chromosome 16. Clin Genet. 1993 Oct;44(4):185–189. doi: 10.1111/j.1399-0004.1993.tb03876.x. [DOI] [PubMed] [Google Scholar]
  9. Nicolaides K. H., Snijders R. J., Thorpe-Beeston J. G., Van den Hof M. C., Gosden C. M., Bellingham A. J. Mean red cell volume in normal, anemic, small, trisomic and triploid fetuses. Fetal Ther. 1989;4(1):1–13. doi: 10.1159/000263384. [DOI] [PubMed] [Google Scholar]
  10. Niemann-Seyde S. C., Rehder H., Zoll B. A case of full triploidy (69,XXX) of paternal origin with unusually long survival time. Clin Genet. 1993 Feb;43(2):79–82. doi: 10.1111/j.1399-0004.1993.tb04432.x. [DOI] [PubMed] [Google Scholar]
  11. Robinson W. P., Binkert F., Bernasconi F., Lorda-Sanchez I., Werder E. A., Schinzel A. A. Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection. Am J Hum Genet. 1995 Feb;56(2):444–451. [PMC free article] [PubMed] [Google Scholar]
  12. Schofield B., Babu A., Punales-Morejon D., Popescu S., Leiter E., Franklin B., Penchaszadeh V. B. Double mosaic aneuploidy: 45,X/47,XY,+8 in a male infant. Am J Med Genet. 1992 Sep 1;44(1):7–10. doi: 10.1002/ajmg.1320440103. [DOI] [PubMed] [Google Scholar]
  13. Serville F., Fontan D., Laurent C., Cazauran J. M., Verger P. Mosaic 45,x/47,xy,+18. Hum Genet. 1977 May 10;36(3):351–353. doi: 10.1007/BF00446288. [DOI] [PubMed] [Google Scholar]
  14. Sipes S. L., Weiner C. P., Wenstrom K. D., Williamson R. A., Grant S. S. The association between fetal karyotype and mean corpuscular volume. Am J Obstet Gynecol. 1991 Nov;165(5 Pt 1):1371–1376. doi: 10.1016/0002-9378(91)90371-w. [DOI] [PubMed] [Google Scholar]
  15. Smith A., den Dulk G. M. Follow-up of case of advanced survival and trisomy 18. J Ment Defic Res. 1980 Sep;24(3):157–158. doi: 10.1111/j.1365-2788.1980.tb00069.x. [DOI] [PubMed] [Google Scholar]

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