These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Mosaic tetrasomy 15q25-->qter in a newborn infant with multiple anomalies.
    Author: Van den Enden A, Verschraegen-Spae MR, Van Roy N, Decaluwe W, De Praeter C, Speleman F.
    Journal: Am J Med Genet; 1996 Jun 14; 63(3):482-5. PubMed ID: 8737657.
    Abstract:
    We describe a premature boy with metopic craniosynostosis, facial anomalies, atrial-septal defect, hydronephrosis and flexion contractures of lower limbs, and mosaic tetrasomy 15q25-->qter. The extra chromosome material was present in the form of an acentric marker. A number of clinical manifestations observed in this child were also found in 3 previously reported patients who were trisomic for the same part of chromosome 15 and in 2 patients who were tetrasomic for a larger segment of 15q.
    [Abstract] [Full Text] [Related] [New Search]