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Duplication 15q22»15qter and its phenotypic expression

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Summary

Two infants with dysmorphism and aortic stenosis were trisomic for the distal part of 15q. Similar to seven other published cases, the facial dysmorphism was characteristic: prominent nose, narrow palpebral fissures, slight anti-mongoloïd slant, low-set ears, long upper lip, and a pronounced philtrum. Laboratory studies failed to demonstrate a gene-dose effect for the enzymes coded by chromosome 15 (PK 3 and MPI) and chromosome 21 (SOD 1).

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References

  • Caspersson T, Zech L, Johansson C (1970) Differential binding of alkylating fluorochromes in human chromosomes. Exp Cell Res 68:316–319

    Google Scholar 

  • Chern CJ, Kennett R, Engel E, Mellman WJ, Croce CM (1977) Assignment of the structural genes for the alpha subunit of hexosaminidase A, mannose phosphate isomerase and pyruvate kinase to the region q22»qter of human chromosome 15. Somat Cell Genet 3:553–560

    PubMed  Google Scholar 

  • Coco R, Penchaszadeh VB (1978) Inherited partial duplication deficiency of chromosome 15 (p12;q22). J Genet Hum 26:203–210

    PubMed  Google Scholar 

  • Dutrillaux B, Laurent C, Conturier J, Lejeune J (1973) Coloration par l'acridine orange de chromosomes préalablement traités par le 5 bromodeoxyuridine (B.U.D.R.). C. R. Acad Sci (Paris) 276:3179

    Google Scholar 

  • Dutrillaux B, Lejeune J (1971) Sur une nouvelle technique d'analyse du caryotype humain. C.R. Acad Sci (Paris) 272:2638

    Google Scholar 

  • Fujimoto A, Towner JW, Ebbin AJ, Kahlstrom EJ, Wilson MG (1974) Inherited partial duplication of chromosome 15. J Med Genet 11:287–290

    PubMed  Google Scholar 

  • Junien C, Rubinson-Skala H, Dreyfus JC, Ravise N, Boue J, Boue J, Boue A, Kaplan JC (1980) PK3: A new chromosome enzyme marker for gene dosage studies in chromosome 15 imbalance. Hum Genet 54:191–196

    Article  PubMed  Google Scholar 

  • Pedersen C (1976) Letters to the Editor. Clin Genet 9:378–382

    PubMed  Google Scholar 

  • Seabright M (1971) A rapid banding technique for human chromosomes. Lancet 971–972

  • Sinet PM, Couturier J, Dutrillaux B, Poissonier M, Raoul O, Rethoré MO, Allar D, Lejeune J, Jerome H (1976) Trisomie 21 et superoxyde dismutase — 1 (IPO-A) — Tentative de localisation sur la sous-bande 21q22-1. Exp Cell Res 97:47–55

    PubMed  Google Scholar 

  • Turleau C, de Grouchy J, Chavin-Colin F, Roubin M (1977) Trisomie 15q distale. Ann Genet (Paris) 20:214–216

    Google Scholar 

  • Tzancheva M, Krachounova M, Damjanova ZV (1981) Two familial cases with trisomy 15q dist. due to a rcp (5;15)(p14;q21). Hum Genet 56:275–277

    PubMed  Google Scholar 

  • Yamamoto Y, Ogasawara N, Gotoh A, Komiya H, Nakai H (1979) A case of 21q- syndrome with normal SOD-1 activity. Hum Genet 48:321–327

    PubMed  Google Scholar 

  • Zabel B, Baumann W (1977) Trisomie partielle pour la partie distale du bras long du chromosome 15 par translocation X/15 maternelle. Ann genet (Paris) 20:285–289

    Google Scholar 

Download references

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Authors and Affiliations

  1. Laboratoire de Cytogénétique, Centre de Transfusion Sanguine de Nancy, avenue de Bourgogne, 54500, Vandoeuvre, France

    M. J. Gregoire & S. Gilgenkrantz

  2. Groupe de recherche de Biologie Prénatale, Centre International de l'Enfance, INSERM U 73, Chateau de Longchamp, Carrefour de Longchamp, Bois de Boulogne, F-75016, Paris, France

    J. Boue

  3. INSERM U 129, Institut de Pathologie moléculaire, 24, rue du Faubourg Saint Jacques, F-75674, Paris-Cedex 14, France

    C. Junien

  4. Centre Hospitalier Régional, Hôpital Jeanne d'Arc, Clinique de cardiologie infantile, Dommartin Les Toul, F-54200, Toul, France

    C. Pernot

  5. Centar za Medicinsku Genetiku Djecta Klinica Rebro, Kispaticeva 12, 41000, Zagreb, Yugoslavia

    L. Zergollern

Authors
  1. M. J. Gregoire
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  2. J. Boue
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  3. C. Junien
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  4. C. Pernot
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  5. S. Gilgenkrantz
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  6. L. Zergollern
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Gregoire, M.J., Boue, J., Junien, C. et al. Duplication 15q22»15qter and its phenotypic expression. Hum Genet 59, 429–433 (1981). https://doi.org/10.1007/BF00295485

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  • DOI: https://doi.org/10.1007/BF00295485

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