Browsing by Author "Morales, Paulina"

Now showing 1 - 2 of 2
  • Thumbnail Image
    Item
    A hydrogeochemistry and isotopic approach for the assessment of surface water-groundwater dynamics in an arid basin : the Limari watershed, North-Central Chile
    (2015) Oyarzun, Ricardo; Jofre, Elizabeth; Morales, Paulina; Maturana, Hugo; Oyarzun, Jorge; Kretschmer, Nicole; Aguirre, Evelyn; Gallardo, Patricio; Toro, Luis E.; Muñoz Pardo, José Francisco; Aravena, Ramón
  • No Thumbnail Available
    Item
    Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion
    (2024) Urzua, Abraham; Catena, Sofia; Morales, Paulina; Lay-Son, Guillermo
    Silver-Russell syndrome (SRS) is a well-known syndrome but with heterogeneous etiologies. We present the case of a child with severe SRS-like features resulting from a complex rearrangement of chromosome 11 inherited from his mother. We studied the index case with karyotyping, MS-MLPA and molecular karyotyping. The mother was studied with karyotyping and subtelomeric FISH. We found a child with marked developmental delay and fatal outcome due to failure to thrive, carrying an 11p15 duplication and an 11q25 deletion of maternal origin. We discovered that the mother was a carrier of a pericentric inversion of chromosome 11, with a history of recurrence in other family members who had severe growth retardation and early death. To our knowledge, no similar SRS-like cases have been described in the literature. This report supports the importance of identification the causative genetic mechanism in SRS-like individuals with duplication in 11p15 region due to high risk of recurrence and to provide an appropriate genetic counseling to the family.