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Chromosomal abnormality in prune belly syndrome

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Summary

A newborn male infant with prune belly syndrome was found to have a small extra chromosome, the second reported instance of this association. In addition to the triad of abnormalities, the propositus had cardiac malformations, hypoplastic lungs, low set ears, bilateral club feet and a cerebellar malformation featuring immature cell heterotopias.

Zusammenfassung

Bei einem männlichen Neugeborenen mit “Pflaumenbauch-Syndrom” fand sich ein kleines zusätzliches Chromosom—der zweite Fall dieser Art. Zusätzlich zu dieser Triade von Anomalien hatte der Proband Herzmißbildungen, hypoplastische Lungen, niedrig ansetzende Ohren, beiderseitigen Klumpfuß und eine Mißbildung des Kleinhirns mit Heterotopie unreifer Zellen.

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References

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Authors and Affiliations

  1. Department of Pediatrics, State University of New York, Downstate Medical Center, Brooklyn, New York, USA

    Qutub H. Qazi, Shirley Kauffman, Joanna Sher & Helouise C. Mapa

  2. Department of Pathology, State University of New York, Downstate Medical Center, Brooklyn, New York, USA

    Qutub H. Qazi, Shirley Kauffman, Joanna Sher & Helouise C. Mapa

  3. Institute of Pathology, King's County Hospital, Brooklyn, New York, USA

    Qutub H. Qazi, Shirley Kauffman, Joanna Sher & Helouise C. Mapa

Authors
  1. Qutub H. Qazi
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  2. Shirley Kauffman
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  3. Joanna Sher
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  4. Helouise C. Mapa
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Qazi, Q.H., Kauffman, S., Sher, J. et al. Chromosomal abnormality in prune belly syndrome. Humangenetik 20, 265–267 (1973). https://doi.org/10.1007/BF00385738

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  • DOI: https://doi.org/10.1007/BF00385738

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