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. 1997 Apr;34(4):309–313. doi: 10.1136/jmg.34.4.309

Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome.

H C Duba 1, M Erdel 1, J Löffler 1, L Bereuther 1, H Fischer 1, B Utermann 1, G Utermann 1
PMCID: PMC1050918  PMID: 9138155

Abstract

We report a dysmorphic boy with a de novo partial trisomy 1q. The boy has microcephaly, bilateral cleft lip and palate, low set and dysmorphic ears, brain anomalies, pulmonary stenosis, duodenal obstruction, dysplastic kidneys, and bifid thumbs. The trisomic segment 1q32-qter is duplicated with an inverted insertion at 1p36.3. The aberration was initially detected at amniocentesis and confirmed and defined by GTG banding, chromosome microdissection, and FISH on postnatal blood samples. The parents had normal karyotypes. De novo partial duplications of chromosome 1q have rarely been reported. Comparison of our patient with other published pure trisomy 1q cases showed similarities which allowed the further delineation of the trisomy 1q syndrome.

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Selected References

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

  1. Bonfante A., Stella M., Rossi G. Partial trisomy of the long arm of chromosome 1 due to a familial translocation t(1;10) (q32;q26). Hum Genet. 1978 Dec 29;45(3):339–343. doi: 10.1007/BF00278732. [DOI] [PubMed] [Google Scholar]
  2. Bourrouillou G., Colombies P., Blanc P. Trisomie 1 q secondaire à une translocation réciproque maternelle. C R Seances Soc Biol Fil. 1978;172(2):359–362. [PubMed] [Google Scholar]
  3. Boué J., Daketsé M. J., Deluchat C., Ravisé N., Yvert F., Boué A. Identifaction par les bandes Q et G des anomalies chromosomiques dans les avortements spontanés. Ann Genet. 1976 Dec;19(4):233–239. [PubMed] [Google Scholar]
  4. Chia N. L., Bousfield L. R., Poon C. C., Trudinger B. J. Trisomy (1q)(q42----qter): confirmation of a syndrome. Clin Genet. 1988 Oct;34(4):224–229. [PubMed] [Google Scholar]
  5. Clark B. J., Lowther G. W., Lee W. R. Congenital ocular defects associated with an abnormality of the human chromosome 1: trisomy 1q32-qter. J Pediatr Ophthalmol Strabismus. 1994 Jan-Feb;31(1):41–45. doi: 10.3928/0191-3913-19940101-09. [DOI] [PubMed] [Google Scholar]
  6. Duillo M. T., de Toni T., Cavaliere G., Bava G. L., Arslanian A., Bonioli E., Vianello M. G. Studio clinico e citogentico di un caso di trisomia 1 q per traslocazione familiare t (1; 5) (q 42; p 15.3). Pathologica. 1979 Mar-Apr;71(1012):223–234. [PubMed] [Google Scholar]
  7. Flatz S., Fonatsch C. Partial trisomy 1q due to tandem duplication. Clin Genet. 1979 Jun;15(6):541–542. doi: 10.1111/j.1399-0004.1979.tb00839.x. [DOI] [PubMed] [Google Scholar]
  8. Fryns J. P., de Muelenaere A., Pedersen J., Van Den Berghe H. Partial distal 1q trisomy. A distinct clinical dysmorphic syndrome in adulthood. Ann Genet. 1980;23(3):181–182. [PubMed] [Google Scholar]
  9. Johnson V. P. Duplication of the distal part of the long arm of chromosome 1. Am J Med Genet. 1991 Jun 1;39(3):258–269. doi: 10.1002/ajmg.1320390305. [DOI] [PubMed] [Google Scholar]
  10. Kennerknecht I., Barbi G., Rodens K. Dup(1q)(q42-->qter) syndrome: case report and review of literature. Am J Med Genet. 1993 Dec 1;47(8):1157–1160. doi: 10.1002/ajmg.1320470805. [DOI] [PubMed] [Google Scholar]
  11. Kiss P., Imrei J. Trisomy 1q. Clin Genet. 1989 Jul;36(1):75–76. doi: 10.1111/j.1399-0004.1989.tb03371.x. [DOI] [PubMed] [Google Scholar]
  12. Leisti J., Aula P. Partial trisomy 1 (q42 leads to ter). Clin Genet. 1980 Nov;18(5):371–378. [PubMed] [Google Scholar]
  13. Liberfarb R. M., Breg W. R., Atkins L., Holmes L. B. Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial 1q duplication and possible 18p deletion: a study of four individuals in two families. Am J Med Genet. 1979;4(1):27–37. doi: 10.1002/ajmg.1320040105. [DOI] [PubMed] [Google Scholar]
  14. Michels V. V., Berseth C. L., O'Brien J. F., Dewald G. Duplication of part of chromosome 1q: clinical report and review of literature. Am J Med Genet. 1984 May;18(1):125–134. doi: 10.1002/ajmg.1320180116. [DOI] [PubMed] [Google Scholar]
  15. Müller-Navia J., Nebel A., Schleiermacher E. Complete and precise characterization of marker chromosomes by application of microdissection in prenatal diagnosis. Hum Genet. 1995 Dec;96(6):661–667. doi: 10.1007/BF00210295. [DOI] [PubMed] [Google Scholar]
  16. Pierquin G., Van Regemorter N., Hayez-Delatte, Fourneau C., Bormans J., Foerster M., Damis E., Cremer-Perlmutter N., Lapiere C. M., Vamos E. Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome. Hum Genet. 1991 Sep;87(5):587–591. doi: 10.1007/BF00209018. [DOI] [PubMed] [Google Scholar]
  17. Rasmussen S. A., Frias J. L., Lafer C. Z., Eunpu D. L., Zackai E. H. Partial duplication 1q: report of four patients and review of the literature. Am J Med Genet. 1990 Jun;36(2):137–143. doi: 10.1002/ajmg.1320360203. [DOI] [PubMed] [Google Scholar]
  18. Rehder H., Friedrich U. Partial trisomy 1q syndrome. Clin Genet. 1979 Jun;15(6):534–540. doi: 10.1111/j.1399-0004.1979.tb00838.x. [DOI] [PubMed] [Google Scholar]
  19. Schinzel A. A further case of cyclopia due to unbalanced segregation of a previously reported rcp(1;7)(q32;q34) familial translocation. Am J Med Genet. 1986 May;24(1):205–206. doi: 10.1002/ajmg.1320240128. [DOI] [PubMed] [Google Scholar]
  20. Schinzel A. Cyclopia and cebocephaly in two newborn infants with unbalanced segregation of a familial translocation rcp (1;7)(q32;q34). Am J Med Genet. 1984 May;18(1):153–161. doi: 10.1002/ajmg.1320180119. [DOI] [PubMed] [Google Scholar]
  21. Schinzel A. Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25). J Med Genet. 1981 Feb;18(1):64–68. doi: 10.1136/jmg.18.1.64. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Seabright M. The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man. Chromosoma. 1972;36(2):204–210. doi: 10.1007/BF00285214. [DOI] [PubMed] [Google Scholar]
  23. Steffensen D. M., Chu E. H., Speert D. P., Wall P. M., Meilinger K., Kelch R. P. Partial trisomy of the long arm of human chromosome 1 as demostrated by in situ hybridization with 5S ribosomal RNA. Hum Genet. 1977 Apr 7;36(1):25–33. doi: 10.1007/BF00390432. [DOI] [PubMed] [Google Scholar]
  24. Taysi K., Sekhon G. S. Partial trisomy of chromosome no. 1 in two adult brothers due to maternal translocation (1q--;6p+). Hum Genet. 1978 Nov 16;44(3):277–285. doi: 10.1007/BF00394292. [DOI] [PubMed] [Google Scholar]
  25. Wade J., Morgan T., Allanson J. Child with deletion of 4q and duplication of 1q. Am J Med Genet. 1989 Aug;33(4):553–554. doi: 10.1002/ajmg.1320330430. [DOI] [PubMed] [Google Scholar]
  26. Yunis E., Egel H., Zúiga R., Ramirez E., Torres de Caballero O. M., Leibovici M. "De novo" trisomy 1q32 leads to 1qter and monosomy 3p25 leads to 3pter. Hum Genet. 1977 Apr 7;36(1):113–116. doi: 10.1007/BF00390442. [DOI] [PubMed] [Google Scholar]
  27. Yunis J. J. New chromosome techniques in the study of human neoplasia. Hum Pathol. 1981 Jun;12(6):540–549. doi: 10.1016/s0046-8177(81)80068-8. [DOI] [PubMed] [Google Scholar]

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