Abstract

CAMMARATA-SCALISI, Francisco. Trisomy 9p: A brief clinical, diagnostic and therapeutic description. Arch. argent. pediatr. [online]. 2019, vol.117, n.5, pp.e473-e476. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2019.e473.

Trisomy 9p is characterized by the partial or complete duplication of the short arm of chromosome 9. It is one of the most common autosomal structural abnormalities in newborn infants. This is a relatively poor gene region, so it may be more compatible with survival. It is characterized by delayed mental and psychomotor growth, craniofacial dysmorphisms, skeletal alterations, central nervous system abnormalities, congenital heart disease, and, to a lesser extent, kidney disorders. To establish a diagnosis, it is necessary to perform a cytogenetic study with G bands and, if available, fluorescence in situ hybridization complemented with comparative genomic hybridization for a better understanding of the genotype-phenotype correlation. Assessment should be interdisciplinary and encompassing a timely family genetic counseling, together with available therapeutic options in an early manner.

Keywords : Trisomy 9p; Diagnosis; Genetic counseling; Treatment.

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