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.
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Abbreviations
- MCA/MR:
-
multiple congenital anomalies/mental retardation
- OFC:
-
occipito-frontal head circumference
References
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Calvieri, F., Tozzi, C., Benincori, C. et al. Partial tetrasomy 9 in an infant with clinical and radiological evidence of multiple joint dislocations. Eur J Pediatr 147, 645–648 (1988). https://doi.org/10.1007/BF00442483
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DOI: https://doi.org/10.1007/BF00442483