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.I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.