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.

Partial tetrasomy 9 in an infant with clinical and radiological evidence of multiple joint dislocations / F. Calvieri;C. Tozzi;C. Benincori;M. V. De;A. Bellussi;M. Genuardi;G. Neri. - In: EUROPEAN JOURNAL OF PEDIATRICS. - ISSN 0340-6199. - STAMPA. - 147:(1988), pp. 645-648.

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

GENUARDI, MAURIZIO;
1988

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.
1988
147
645
648
F. Calvieri;C. Tozzi;C. Benincori;M. V. De;A. Bellussi;M. Genuardi;G. Neri
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/649706
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