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. 1986 Apr;23(2):180–183. doi: 10.1136/jmg.23.2.180

Prenatal diagnosis and follow up of a child with a complex chromosome rearrangement.

M H Bogart, C L Bradshaw, O W Jones, J E Schanberger
PMCID: PMC1049579  PMID: 3712398

Abstract

A case of de novo, apparently balanced, three way exchange by translocation plus a pericentric inversion is described. The karyotype is 46,XX,t(6;11)(p21;q21),t(11;21) (q21;p13),inv(6)(p21q11) and was ascertained through second trimester amniocentesis. The structural rearrangements appear balanced. The child was phenotypically normal at birth. Growth and motor development were normal until 30 months, at which time linear growth dropped below the 5th centile. In addition, there was delayed speech development at 2 years of age. As far as we can determine, this is the first report of a three chromosome exchange including a pericentric inversion ascertained through genetic amniocentesis.

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Selected References

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

  1. Allderdice P. W., Miller O. J., Miller D. A., Breg W. R., Gendel E., Zelson C. Familial translocation involving chromosomes 6, 14 and 20, identified by quinacrine fluorescence. Humangenetik. 1971;13(3):205–209. doi: 10.1007/BF00326943. [DOI] [PubMed] [Google Scholar]
  2. Ballesta F., Fernández E., Milá M. Translocation t (1;8;15) maternelle et trisomie 8qter chez la fille. Conseil génétique. J Genet Hum. 1980 Sep;28(3):361–366. [PubMed] [Google Scholar]
  3. Buchanan P. D., Rao K. W., Doerr C. L., Aylsworth A. S. A complex translocation involving chromosomes 3,11, and 14 with an interstitial deletion, del(14) (q13q22) in a child with congenital glaucoma and cleft lip and palate. Birth Defects Orig Artic Ser. 1978;14(6C):317–322. [PubMed] [Google Scholar]
  4. Couzin D. A., Watt J. L., Auchterlonie I. A. A complex double translocation involving four chromosomes and five breakpoints in a child with mild mental retardation. J Med Genet. 1983 Oct;20(5):389–392. doi: 10.1136/jmg.20.5.389. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Creasy M. R., Crolla J. A., Daker M. G. A familial reciprocal translocation between three chromosomes. Humangenetik. 1974;24(4):303–308. doi: 10.1007/BF00297594. [DOI] [PubMed] [Google Scholar]
  6. Dallapiccola B., Bollea G., Mazzilli C., Gandini E. Complex translocation t(9;21)(9;22)(q12p13)(q12q11) in the family of a child with 9p trisomy syndrome. Hum Genet. 1976 Jul 7;33(1):73–76. doi: 10.1007/BF00447289. [DOI] [PubMed] [Google Scholar]
  7. Fredga K., Hall B. A complex familial translocation involving chromosomes 5, 9 and 13. Cytogenetics. 1970;9(4):294–306. doi: 10.1159/000130099. [DOI] [PubMed] [Google Scholar]
  8. Fujita H., Abe T., Yamamoto K., Furuyama J. Possible complex translocation t(9;14;13) (q12;pl?;Q31) in mother of a child with 9-p trisomy syndrome. Humangenetik. 1974;25(2):83–92. doi: 10.1007/BF00283308. [DOI] [PubMed] [Google Scholar]
  9. Hustinx T. W., Nabben F. A., Scheres J. M. Partial trisomy of chromosome 1 resulting from a complex maternal rearrangement of chromosomes 1, 5, and 6. Am J Med Genet. 1979;3(4):353–358. doi: 10.1002/ajmg.1320030406. [DOI] [PubMed] [Google Scholar]
  10. Joseph A., Thomas I. M. A complex rearrangement involving three autosomes in a phenotypically normal male presenting with sterility. J Med Genet. 1982 Oct;19(5):375–377. doi: 10.1136/jmg.19.5.375. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Muneer R. S., Donaldson D. L., Rennert O. M. Complex balanced translocation of chromosomes 2, 3, and 13. Hum Genet. 1981;59(2):182–184. doi: 10.1007/BF00293074. [DOI] [PubMed] [Google Scholar]
  12. Nuzzo F., Marini A., Baglioni C., Ford C. E., De Carli L., Piceni Sereni L. A case of multople chromosomal rearrangements with persistence of foetal haemoglobin. Cytogenetics. 1968;7(3):169–182. doi: 10.1159/000129981. [DOI] [PubMed] [Google Scholar]
  13. Palmer C. G., Poland C., Reed T., Kojetin J. Partial trisomy 11,46,XX,-3,-20, + der3, + der20,t(3:11:20), resulting from a complex maternal rearrangement of chromosomes 3, 11, 20. Hum Genet. 1976 Feb 29;31(2):219–225. doi: 10.1007/BF00296149. [DOI] [PubMed] [Google Scholar]
  14. Sanchez O., Yunis J. J., Escobar J. I. Partial trisomy 11 in a child resulting from a complex maternal rearrangement of chromosomes 11, 12 and 13. Humangenetik. 1974 Apr 24;22(1):59–65. doi: 10.1007/BF00338135. [DOI] [PubMed] [Google Scholar]
  15. Schwinger E., Mikkelsen M., Niesen M. Familial balanced (7;11;21) translocation and Down's syndrome in two siblings. Clin Genet. 1975 Apr;7(4):304–307. doi: 10.1111/j.1399-0004.1975.tb00333.x. [DOI] [PubMed] [Google Scholar]
  16. Seabright M., Gregson N., Pacifico E., Mould S., Ryde J., Pearson J., Bradley A. Rearrangements involving four chromosomes in a child with congenital abnormalities. Cytogenet Cell Genet. 1978;20(1-6):150–154. doi: 10.1159/000130846. [DOI] [PubMed] [Google Scholar]
  17. Tanaka N., Ikeuchi T., Yara I., Kitahara K. Trisomy 9p due to a maternal complex translocation involving chromosomes 4, 6 and 9. Jinrui Idengaku Zasshi. 1977 Mar;21(4):261–268. [PubMed] [Google Scholar]
  18. Watt J. L., Couzin D. A. De novo translocation heterozygote with three reciprocal translocations. J Med Genet. 1983 Oct;20(5):385–388. doi: 10.1136/jmg.20.5.385. [DOI] [PMC free article] [PubMed] [Google Scholar]

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