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. 1997 Nov;34(11):899–903. doi: 10.1136/jmg.34.11.899

Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly.

B Benzacken 1, J P Siffroi 1, C Le Bourhis 1, K Krabchi 1, N Joyé 1, F Maschino 1, F Viguié 1, J Soulié 1, M Gonzales 1, G Migné 1, M Bucourt 1, F Encha-Razavi 1, L Carbillon 1, J L Taillemite 1
PMCID: PMC1051116  PMID: 9391882

Abstract

Four new cases of holoprosencephaly are described in fetuses exhibiting abnormal karyotypes with different distal and proximal rearrangements of the long arm of chromosome 7. Three of them showed terminal deletions of chromosome 7q, confirming the importance of the 7q36 region in holoprosencephaly. The karyotype of the fourth fetus showed an apparently balanced de novo translocation, t(7;13) (q21.2;q33), without any visible loss of the distal part of chromosome 7q. The involvement of new genes, different from the human Sonic Hedgehog gene (hShh) responsible for holoprosencephaly, or a positional effect are discussed.

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Selected References

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  1. Bedell M. A., Jenkins N. A., Copeland N. G. Good genes in bad neighbourhoods. Nat Genet. 1996 Mar;12(3):229–232. doi: 10.1038/ng0396-229. [DOI] [PubMed] [Google Scholar]
  2. Belloni E., Muenke M., Roessler E., Traverso G., Siegel-Bartelt J., Frumkin A., Mitchell H. F., Donis-Keller H., Helms C., Hing A. V. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet. 1996 Nov;14(3):353–356. doi: 10.1038/ng1196-353. [DOI] [PubMed] [Google Scholar]
  3. Bürrig K. F., Gebauer J., Terinde R., Pfitzer P. Case of cyclopia with an unbalanced karyotype attributable to a balanced 3/7 translocation. Clin Genet. 1989 Oct;36(4):262–265. doi: 10.1111/j.1399-0004.1989.tb03200.x. [DOI] [PubMed] [Google Scholar]
  4. Chiang C., Litingtung Y., Lee E., Young K. E., Corden J. L., Westphal H., Beachy P. A. Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature. 1996 Oct 3;383(6599):407–413. doi: 10.1038/383407a0. [DOI] [PubMed] [Google Scholar]
  5. Cohen M. M., Jr Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. Teratology. 1989 Sep;40(3):211–235. doi: 10.1002/tera.1420400304. [DOI] [PubMed] [Google Scholar]
  6. Cohen M. M., Jr Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet. 1989 Oct;34(2):271–288. doi: 10.1002/ajmg.1320340232. [DOI] [PubMed] [Google Scholar]
  7. Dernburg A. F., Broman K. W., Fung J. C., Marshall W. F., Philips J., Agard D. A., Sedat J. W. Perturbation of nuclear architecture by long-distance chromosome interactions. Cell. 1996 May 31;85(5):745–759. doi: 10.1016/s0092-8674(00)81240-4. [DOI] [PubMed] [Google Scholar]
  8. Fan C. M., Porter J. A., Chiang C., Chang D. T., Beachy P. A., Tessier-Lavigne M. Long-range sclerotome induction by sonic hedgehog: direct role of the amino-terminal cleavage product and modulation by the cyclic AMP signaling pathway. Cell. 1995 May 5;81(3):457–465. doi: 10.1016/0092-8674(95)90398-4. [DOI] [PubMed] [Google Scholar]
  9. Gurrieri F., Trask B. J., van den Engh G., Krauss C. M., Schinzel A., Pettenati M. J., Schindler D., Dietz-Band J., Vergnaud G., Scherer S. W. Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nat Genet. 1993 Mar;3(3):247–251. doi: 10.1038/ng0393-247. [DOI] [PubMed] [Google Scholar]
  10. Harlow C. L., Partington M. D., Thieme G. A. Lumbosacral agenesis: clinical characteristics, imaging, and embryogenesis. Pediatr Neurosurg. 1995;23(3):140–147. doi: 10.1159/000120951. [DOI] [PubMed] [Google Scholar]
  11. Human gene mapping 11. London Conference (1991). Eleventh International Workshop on Human Gene Mapping. London, UK, August 18-22, 1991. Cytogenet Cell Genet. 1991;58(3-4):986–2156. doi: 10.1159/000133716. [DOI] [PubMed] [Google Scholar]
  12. Kleczkowska A., Fryns J. P., Moerman P., Vandenberghe K., Van den Berghe H. Holoprosencephaly in a fetus with a 46,XX,der(7), t(7;8)(q36.1;p12) mat karyotype. Ann Genet. 1990;33(2):111–112. [PubMed] [Google Scholar]
  13. Lurie I. W., Ilyina H. G., Podleschuk L. V., Gorelik L. B., Zaletajev D. V. Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis. Am J Med Genet. 1990 Feb;35(2):286–288. doi: 10.1002/ajmg.1320350229. [DOI] [PubMed] [Google Scholar]
  14. Lynch S. A., Bond P. M., Copp A. J., Kirwan W. O., Nour S., Balling R., Mariman E., Burn J., Strachan T. A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nat Genet. 1995 Sep;11(1):93–95. doi: 10.1038/ng0995-93. [DOI] [PubMed] [Google Scholar]
  15. McGahan J. P., Nyberg D. A., Mack L. A. Sonography of facial features of alobar and semilobar holoprosencephaly. AJR Am J Roentgenol. 1990 Jan;154(1):143–148. doi: 10.2214/ajr.154.1.2104699. [DOI] [PubMed] [Google Scholar]
  16. Mizuki N., Kimura M., Ohno S., Miyata S., Sato M., Ando H., Ishihara M., Goto K., Watanabe S., Yamazaki M. Isolation of cDNA and genomic clones of a human Ras-related GTP-binding protein gene and its chromosomal localization to the long arm of chromosome 7, 7q36. Genomics. 1996 May 15;34(1):114–118. doi: 10.1006/geno.1996.0248. [DOI] [PubMed] [Google Scholar]
  17. Morichon-Delvallez N., Delezoide A. L., Vekemans M. Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter. J Med Genet. 1993 Jun;30(6):521–524. doi: 10.1136/jmg.30.6.521. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Muenke M., Gurrieri F., Bay C., Yi D. H., Collins A. L., Johnson V. P., Hennekam R. C., Schaefer G. B., Weik L., Lubinsky M. S. Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. Proc Natl Acad Sci U S A. 1994 Aug 16;91(17):8102–8106. doi: 10.1073/pnas.91.17.8102. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Pluchon E., Giovangrandi Y., Labbe F., Le Bris M. J., Collet M., Brettes J. P., Riviere D., Riviere M. R. Prenatal diagnosis of a fetus with partial monosomy 7(q34-->qter) and partial trisomy 18(q21-->qter). Prenat Diagn. 1993 Oct;13(10):983–988. doi: 10.1002/pd.1970131013. [DOI] [PubMed] [Google Scholar]
  20. Roessler E., Belloni E., Gaudenz K., Jay P., Berta P., Scherer S. W., Tsui L. C., Muenke M. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet. 1996 Nov;14(3):357–360. doi: 10.1038/ng1196-357. [DOI] [PubMed] [Google Scholar]
  21. 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]
  22. Verloes A., Aymé S., Gambarelli D., Gonzales M., Le Merrer M., Mulliez N., Philip N., Roume J. Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. J Med Genet. 1991 May;28(5):297–303. doi: 10.1136/jmg.28.5.297. [DOI] [PMC free article] [PubMed] [Google Scholar]

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