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. 1973 Jun;10(2):180–184. doi: 10.1136/jmg.10.2.180

Trisomy 9 Mosaicism with Multiple Congenital Anomalies

Robert H A Haslam 1,2,3,4, Stuart P Broske 1,2,3,4, Charleen M Moore 1,2,3,4,**, George H Thomas 1,2,3,4, Catherine A Neill 1,2,3,4
PMCID: PMC1013013  PMID: 4714587

Abstract

A nine-year-old male with developmental abnormalities was found to be mosaic for an extra No. 9 chromosome (46,XY/47,XY,+9). The clinical findings included severe mental retardation, peculiar facies, short stature, hypotonia, dextroposition with a ventricular septal defect, and patent ductus arteriosus, as well as significant abnormalities of the brain.

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Selected References

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  1. Caspersson T., Lindsten J., Zech L., Buckton K. E., Price W. H. Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques. J Med Genet. 1972 Mar;9(1):1–7. doi: 10.1136/jmg.9.1.1. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Caspersson T., Zech L., Johansson C., Modest E. J. Identification of human chromosomes by DNA-binding fluorescent agents. Chromosoma. 1970;30(2):215–227. doi: 10.1007/BF00282002. [DOI] [PubMed] [Google Scholar]
  3. De la Chapelle A., Wennström J., Wasastjerna C., Knutar F., Stenman U. H., Weber T. H. Apparent C trisomy in bone marrow cells. Report of two cases. Scand J Haematol. 1970;7(2):112–122. doi: 10.1111/j.1600-0609.1970.tb01877.x. [DOI] [PubMed] [Google Scholar]
  4. Gustavson K. H., Hagberg B., Santesson B. Mosaic trisomy of an autosome in the 6-12 group in a patient with multiple congenital anomalies. Acta Paediatr Scand. 1967 Nov;56(6):681–686. doi: 10.1111/j.1651-2227.1967.tb15996.x. [DOI] [PubMed] [Google Scholar]
  5. Higurashi M., Naganuma M., Matsui I., Kamoshita S. Two cases of trisomy C6-12 mosaicism with multiple congenital malformations. J Med Genet. 1969 Dec;6(4):429–434. doi: 10.1136/jmg.6.4.429. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. JACOBS P. A., HARNDEN D. G., BUCKTON K. E., BROWN W. M., KING M. J., McBRIDE J. A., MACGREGOR T. N., MACLEAN N. Cytogenetic studies in primary amenorrhoea. Lancet. 1961 Jun 3;1(7188):1183–1189. doi: 10.1016/s0140-6736(61)91939-0. [DOI] [PubMed] [Google Scholar]
  7. Jalbert P., Jobert J., Patet J., Mouriquand C., Roget J. Un nouveau cas de trisomie présumée 6-12. Ann Genet. 1966 Sep;9(3):109–112. [PubMed] [Google Scholar]
  8. Juberg R. C., Gilbert E. F., Salisbury R. S. Trisomy C in an infant with polycystic kidneys and other malformations. J Pediatr. 1970 Apr;76(4):598–603. doi: 10.1016/s0022-3476(70)80411-5. [DOI] [PubMed] [Google Scholar]
  9. Kuliev A. M. Cytogenetic investigation of spontaneous abortions. Humangenetik. 1971;12(4):275–283. doi: 10.1007/BF00278048. [DOI] [PubMed] [Google Scholar]
  10. MOORHEAD P. S., NOWELL P. C., MELLMAN W. J., BATTIPS D. M., HUNGERFORD D. A. Chromosome preparations of leukocytes cultured from human peripheral blood. Exp Cell Res. 1960 Sep;20:613–616. doi: 10.1016/0014-4827(60)90138-5. [DOI] [PubMed] [Google Scholar]
  11. Riccardi V. M., Atkins L., Holmes L. B. Absent patellae, mild mental retardation, skeletal and genitourinary anomalies, and C group autosomal mosaicism. J Pediatr. 1970 Oct;77(4):664–672. doi: 10.1016/s0022-3476(70)80210-4. [DOI] [PubMed] [Google Scholar]
  12. Wolf U., Reinwein H. Chromosomenmosaik C-Trisomie/normal. Humangenetik. 1965;1(7):686–687. [PubMed] [Google Scholar]
  13. de Grouchy J., Turleau C., Léonard C. Etude en fluorescence d'une trisomie C mosaique, probablement 8: 46,XY-47,XY,?8+. Ann Genet. 1971 Mar;14(1):69–72. [PubMed] [Google Scholar]

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