European Journal of Pediatrics

, Volume 147, Issue 6, pp 645–648

Partial tetrasomy 9 in an infant with clinical and radiological evidence of multiple joint dislocations

  • F. Calvieri
  • C. Tozzi
  • C. Benincori
  • M. V. De Merulis
  • A. Bellussi
  • M. Genuardi
  • G. Neri
Case Reports

Abstract

We report on an infant with partial tetrasomy of chromosome 9 due to the presence in her peripheral lymphocytes and in 55% of skin fibroblasts of an isochromosome 9 comprised of the p arm and of a portion of the q arm extending to band q21.1. The phenotype is comparable to that of other cases with a similar chromosome aberration, with multiple joint dislocations as a prominent manifestation.

Key words

Partial tetrasomy 9 Chromosome aberration Multiple congenital anomalies/mental retardation syndrome Multiple joint dislocations Arthrogryposis 

Abbreviations

MCA/MR

multiple congenital anomalies/mental retardation

OFC

occipito-frontal head circumference

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Copyright information

© Springer-Verlag 1988

Authors and Affiliations

  • F. Calvieri
    • 1
  • C. Tozzi
    • 1
  • C. Benincori
    • 2
  • M. V. De Merulis
    • 2
  • A. Bellussi
    • 3
  • M. Genuardi
    • 4
  • G. Neri
    • 5
  1. 1.Centro per le Embriofetopatie, Ospedale S.GiovanniU.C.S.C.RomaItaly
  2. 2.Divisione di Pediatria, Ospedale Villa IrmaU.C.S.C.RomaItaly
  3. 3.Servizio di Radiologia, Ospedale S.CamilloU.C.S.C.RomaItaly
  4. 4.Istituto di Genetica Umana, Facoltá di Medicina A. GemelliU.C.S.C.RomaItaly
  5. 5.Istituto di Biologia e GeneticaUniversitá G. D'AnnunzioChietiItaly

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