Skip to main content
SpringerLink
Log in

Dysplastic features, growth retardation, malrotation of the gut, and fatal ventricular septal defect in a 4-month-old girl with ring chromosome 15

  • Case Reports
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

A 20-day-old female neonate was admitted with symptoms caused by a large ventricular septal defect which was subsequently confirmed angiographically. Other clinical findings were pre-and postnatal growth retardation, microcephaly, dysmorphism of ears, fingers and feet. Cytogenetic analysis revealed a ring chromosome 15. Despite a palliative banding operation of the pulmonary artery, the infant succumbed to complications of her congenital heart disease in the 4th month of life.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Abbreviations

NOR:

nucleolar organizer regions

References

  1. Forabosco A, Dutrillaux B, Vazzoler G, Lejeune J (1972) Chromosome 15 en anneau: r(15). Identification par dénaturation ménagée. Ann Genet (Paris) 15:267–270

    Google Scholar 

  2. Fryns JP, Jaeken J, Devlieger H, Debucquoy P, Eggermont E, Van den Berghe H (1981) Ring chromosome 15 syndrome. Acta Paediatr Belg 34:47–49

    Google Scholar 

  3. Fujita H, Matsumoto H (1978) Ring chromosome 15; 46, XX, r(15) (p11q26) in a girl. Jpn J Hum Genet 23:233–237

    Google Scholar 

  4. Goodpasture C, Bloom SE (1975) Visualization of nucleolar organizer regions in mammalian chromosomes using silver staining. Chromosoma 53:37–50

    Google Scholar 

  5. Jacobsen P (1966) A ring chromosome in the 13–15 group associated with microphalic dwarfism, mental retardation and emotional immaturity. Hereditas 55:188–191

    Google Scholar 

  6. Kawasaki T, Kamimae A, Maeda J, Shonohara T, Tomita H (1975) A case with No 15 ring chromosome. Jpn J Pediat Pract 38:544

    Google Scholar 

  7. Moreau N, Teyssier M (1982) Ring chromosome 15: Report of a case in an infertile man. Clin Genet 21: 272–279

    Google Scholar 

  8. Scheibenreiter S, Frisch H (1978) Ein Kind mit Ringchromosom 15. Wien Klin Wochenschr 90:22–25

    Google Scholar 

  9. Schmid M, Henrichs I, Nestler H, Knörr-Gärtner H, Teller WM, Krone W (1978) Analysis of banding patterns and mosaic configurations in a case of ring chromosome 15. Hum Genet 41:289–299

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Neugeborenen-Intensivstation, Universitäts-Kinderklinik, Mathildenstraße 1, D-7800, Freiburg i. Br., Federal Republic of Germany

    J. Otto, H. O. Fürste, M. Abel & W. Pringsheim

  2. Institut für Humangenetik der Universität, Albertstraße 11, D-7800, Freiburg i. Br., Federal Republic of Germany

    E. Back

  3. Sektion Kinderpathologie des Pathologischen Instituts, Albertstraße 19, D-7800, Freiburg i. Br., Federal Republic of Germany

    N. Böhm

Authors
  1. J. Otto
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. E. Back
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. H. O. Fürste
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. M. Abel
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. N. Böhm
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. W. Pringsheim
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Otto, J., Back, E., Fürste, H.O. et al. Dysplastic features, growth retardation, malrotation of the gut, and fatal ventricular septal defect in a 4-month-old girl with ring chromosome 15. Eur J Pediatr 142, 229–231 (1984). https://doi.org/10.1007/BF00442457

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00442457

Key words

Search

Navigation