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Abstract
Description of the first case of Jacobsen syndrome in Argentina and its evolution. A one and a half year old patient with congenital pancytopenia, dysmorphia and skin spots was evaluated. Infectious and toxicological causes were ruled out. Fanconi anemia was initially suspected. The diepoxybutane test (DEB) was negative, normal echocardiogram and X-rays. The karyotype revealed a de novo deletion in the 11q23 region, compatible with Jacobsen syndrome. This syndrome is caused by a deletion of contiguous genes and is characterized by intellectual deficit, prenatal and postnatal growth retardation, characteristic facial features, thrombocytopenia or pancytopenia. In addition, they can present malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system, skeletal and immunological abnormalities. The microarray study was performed specifying the breakpoint in the 11q24.1 region and the size of the deletion of 13,133 Mb.
References
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