Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1979 Dec;16(6):461–466. doi: 10.1136/jmg.16.6.461

Familial partial 7q monosomy resulting from segregation of an insertional chromosome rearrangement.

K B Nielsen, F Egede, I Mouridsen, J Mohr
PMCID: PMC1012594  PMID: 537020

Abstract

A family with an insertional type of chromosome rearrangement involving chromosomes 7 and 13 is reported. An interstitial deletion of a segment of chromosome 7 (7q32 leads to 34) had been inserted into the long arm of chromosome 13 at breakpoint q32. Segregation of this chromosome rearrangement gave rise to three subjects who were monosomic for the involved segment of chromosome 7. The karyotypes were: 46,XX, or XY,der(7)ins(13;7) (q32;q32q34). All three subjects were mentally retarded and had minor dysmorphic features. The Kidd, Colton, and Kell blood group systems were investigated, but were not informative.

Full text

PDF
466

Images in this article

462Image
on p.462
462Image
on p.462
462Image
on p.462
463Image
on p.463
464Image
on p.464

Selected References

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

  1. Ayraud N., Rovinski J., Lambert J. C., Galiana A. Délétion interstitielle du bras long d'un chromosome 7 chez une enfant lepréchaune. Ann Genet. 1976 Dec;19(4):265–268. [PubMed] [Google Scholar]
  2. Bass H. N., Crandall B. F., Marcy S. M. Two different chromosome abnormalities resulting from a translocation carrier father. J Pediatr. 1973 Dec;83(6):1034–1038. doi: 10.1016/s0022-3476(73)80545-1. [DOI] [PubMed] [Google Scholar]
  3. Biederman B., Bowen P. Balanced t(8;9)(q12;q33)pat carrier with phenotypic abnormalities attributable to a de novo terminal deletion of the long arm of chromosome 7. Hum Genet. 1978 Feb 23;41(1):101–107. doi: 10.1007/BF00278876. [DOI] [PubMed] [Google Scholar]
  4. Chudley A. E., Bauder F., Ray M., McAlpine P. J., Pena S. D., Hamerton J. L. Familial mental retardation in a family with an inherited chromosome rearrangement. J Med Genet. 1974 Dec;11(4):353–366. doi: 10.1136/jmg.11.4.353. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. De Ca Chapelle A., Vuopio P., Sanger R., Teesdale P. Monosomy-7 and the Colton blood-groups. Lancet. 1975 Oct 25;2(7939):817–817. doi: 10.1016/s0140-6736(75)80042-0. [DOI] [PubMed] [Google Scholar]
  6. De Grouchy J., Veslot J., Bonnette J., Roidot M. A case of?6p- chromosomal aberration. Am J Dis Child. 1968 Jan;115(1):93–99. doi: 10.1001/archpedi.1968.02100010095019. [DOI] [PubMed] [Google Scholar]
  7. Franceschini P., Silengo M. C., Davi G. F., Santoro M. A., Prandi G., Fabris C. Interstitial deletion of the long arm of chromosome 7 46,XX,del(7)(pter leads to q2200::q3200 leads to qter). Hum Genet. 1978 Nov 16;44(3):345–348. doi: 10.1007/BF00394300. [DOI] [PubMed] [Google Scholar]
  8. Harris E. L., Wappner R. S., Palmer C. G., Hall B., Dinno N., Seashore M. R., Breg W. R. 7q deletion syndrome (7q32 leads to 7qter). Clin Genet. 1977 Oct;12(4):233–238. [PubMed] [Google Scholar]
  9. Higginson G., Weaver D. D., Magenis R. E., Prescott G. H., Haag C., Hepburn D. J. Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies. Clin Genet. 1976 Nov;10(5):307–312. doi: 10.1111/j.1399-0004.1976.tb00053.x. [DOI] [PubMed] [Google Scholar]
  10. Kousseff B. G., Hsu L. Y., Paciuc S., Hirschhorn K. A partial long arm deletion of chromosome 7:46,XY,del(7)(q32). J Med Genet. 1977 Apr;14(2):144–147. doi: 10.1136/jmg.14.2.144. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Mohr J., Eiberg H. Colton blood groups: indication of linkage with the Kidd (Jk) system as support for assignment to chromosome 7. Clin Genet. 1977 May;11(5):372–374. doi: 10.1111/j.1399-0004.1977.tb01329.x. [DOI] [PubMed] [Google Scholar]
  12. Rethoré M. O., Lejeune J., Carpentier S., Prieur M., Dutrillaux B., Seringe P., Rossier A., Job J. C. Trisomie pour la partie distale du bras court du chromosome 3 chez trois germains. Premier exemple d'insertion chromosomique: INS (7;3) (q 31; p 21 p 26. Ann Genet. 1972 Sep;15(3):159–165. [PubMed] [Google Scholar]
  13. Seabright M., Lewis G. M. Interstitial deletion of chromosome 7 detected in three unrelated patients. Hum Genet. 1978 Jun 9;42(2):223–226. doi: 10.1007/BF00283642. [DOI] [PubMed] [Google Scholar]
  14. Shapiro L. R., Warburton D. Interstitial translocation in man. Lancet. 1972 Sep 30;2(7779):712–713. doi: 10.1016/s0140-6736(72)92120-4. [DOI] [PubMed] [Google Scholar]
  15. Shokeir M. H., Ying K. L., Pabello P. Deletion of the long arm of chromosome no. 7: tentative assignment of the Kidd (Jk) locus. Clin Genet. 1973;4(4):360–368. doi: 10.1111/j.1399-0004.1973.tb01932.x. [DOI] [PubMed] [Google Scholar]
  16. de Grouchy J., Turleau C. Tentative localization of a Hageman (Factor XII) locus on 7q, probably the 7q35 band. Humangenetik. 1974;24(3):197–200. doi: 10.1007/BF00283584. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES