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. 1979 Dec;16(6):453–460. doi: 10.1136/jmg.16.6.453

Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities.

M D Crawfurd, I Kessel, M Liberman, J A McKeown, P Y Mandalia, M A Ridler
PMCID: PMC1012593  PMID: 537019

Abstract

Two cases of interstitial deletion of chromosome 7 are presented, one involving the short arm and the other the long arm. The cytogenetic, dermatoglyphic, and clinical findings are compared with previously reported cases of chromosome 7 deletion. The patient with a short arm deletion differs clinically from the previously reported cases but, in common with a least one previous case, has a low total finger ridge count. His interstitial deletion involving the 7p13 leads to 7p21 region also differs from 7p deletions reported in earlier cases. The patient with a long arm deletion has an interstitial loss of the region between 7q11 and 7q21, corresponding to one of three groups of 7q deletion that have been recognised. The phenotypic changes in this group are less well defined than in the other two and the patient presented here differs clinically from the previously reported cases, apart from one phenotypically normal mosaic case, in lacking morphological abnormalities. He shares with one previous case both epilepsy and a high intensity of dermal ridge patterns.

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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. CHERRILL F. R. Finger prints and disease. Nature. 1950 Oct 7;166(4223):581–584. doi: 10.1038/166581a0. [DOI] [PubMed] [Google Scholar]
  4. 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]
  5. De la Chapelle A., Vuopio P., Sanger R., Teesdale P. The Colton blood groups in monosomy 7 of the bone marrow. Birth Defects Orig Artic Ser. 1976;12(7):280–283. [PubMed] [Google Scholar]
  6. 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]
  7. Friedrich U., Lyngbye T., Oster J. A girl with karyotype 46,XX,del(7)(qter-p 15:). Humangenetik. 1975;26(2):161–165. doi: 10.1007/BF00278448. [DOI] [PubMed] [Google Scholar]
  8. Gong B. T., Norwood T. H., Hoehn H., McPherson E., Hall J. G., Hickman R. Chromosome 7 short arm deletion and craniosynostosis. A 7p-syndrome. Hum Genet. 1976 Dec 29;35(1):117–123. doi: 10.1007/BF00295627. [DOI] [PubMed] [Google Scholar]
  9. 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]
  10. 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]
  11. 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]
  12. Rowley J. D., Potter D. Chromosomal banding patterns in acute nonlymphocytic leukemia. Blood. 1976 May;47(5):705–721. [PubMed] [Google Scholar]
  13. Ruutu P., Ruutu T., Vuopie P., Kosunen T. U., de la Chapelle A. Defective chemotaxis in monosomy-7. Nature. 1977 Jan 13;265(5590):146–147. doi: 10.1038/265146a0. [DOI] [PubMed] [Google Scholar]
  14. 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]
  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. Turleau C., de Grouchy J., Chavin-Colin F., Roubin M., Langmaid H. Trisomie 9p : 2 nouvelles observations. Ann Genet. 1974 Sep;17(3):167–174. [PubMed] [Google Scholar]
  17. Wilson M. G., Fujimoto A., Shinno N. W., Towner J. W. Giant satellites or translocation? Cytogenet Cell Genet. 1973;12(4):209–214. doi: 10.1159/000130457. [DOI] [PubMed] [Google Scholar]
  18. Zackai E. H., Breg W. R. Ring chromosome 7 with variable phenotypic expression. Cytogenet Cell Genet. 1973;12(1):40–48. doi: 10.1159/000130436. [DOI] [PubMed] [Google Scholar]
  19. 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]

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