Human Genetics

, Volume 56, Issue 3, pp 413–415 | Cite as

4p- syndrome in a girl with translocation t(1;4)(q11;p16)mat

  • Claude Stoll
  • A. Pennerath
  • Ch. Lausecker
Clinical Case Reports

Summary

A newborn girl had features of the 4p- syndrome. Cytogenetic studies of the mother showed a translocation t(1;4)(q11;p16). The proband had the translocation, but the band 4p16 had been lost.

Keywords

Internal Medicine Metabolic Disease Cytogenetic Study Band 4p16 Newborn Girl 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Centerwall WR, Thompson WP, Allen IE, Fobes CD (1975) Translocation 4p- syndrome. A general review. Am J Dis Child 129:366–370PubMedGoogle Scholar
  2. Craig-Holmes AP, Moore FB, Shaw MW (1975) Polymorphism of human C-band heterochromatin. II. Family studies with suggestive evidence for somatic crossing-over. Am J Hum Genet 27:178–189PubMedGoogle Scholar
  3. Francois J, Berger R, Saraux H (1972) Les aberrations chromosomiques en ophtalmologie. Masson et Cie, Paris, p 153Google Scholar
  4. Hirschhorn K, Cooper HL, Firschein IL (1965) Deletion of short arms of chromosome 4–5 in a child with defects of midline fusion. Humangenetik 1:479–482PubMedGoogle Scholar
  5. McKenzie WH, Lubs HA (1975) Human Q and C chromosomal variations: distribution and incidence. Cytogenet Cell Genet 14:97–115PubMedGoogle Scholar
  6. Muller HJ (1935) A viable two-gene deficiency phenotypically resembling the corresponding hypomorphic mutations. J Hered 26:469–478Google Scholar
  7. Neu RL, Shott RJ, Gardner L (1975) 4p- phenotype in an infant with t(4p-; 19p or q+)mat translocation. Am J Dis Child 129:363–365PubMedGoogle Scholar
  8. Wilcox LM, Bercovitch L, Howard RO (1978) Ophthalmic features of chromosome deletion 4p- (Wolf-Hirschhorn syndrome). Am J Ophthalmol 86:834–839PubMedGoogle Scholar
  9. Wolf U, Reinwein H, Porsch R, Schröter R, Baitsch H (1965) Defizienz an den kurzen Armen eines Chromosomes Nr. 4. Humangenetik 1:397–413PubMedGoogle Scholar

Copyright information

© Springer-Verlag 1981

Authors and Affiliations

  • Claude Stoll
    • 1
  • A. Pennerath
    • 2
  • Ch. Lausecker
    • 2
  1. 1.Institut de PuéricultureHôpital CivilStrasbourgFrance
  2. 2.Service de Pédiatrie AHôpital PasteurColmarFrance

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