Project Title
Anomalías congénitas y trastornos del desarrollo: Evaluación de costo-efectividad de las nuevas herramientas diagnósticas
Partner Organisations
Internal ID
SA13I20321
Principal Investigator
GUILLERMO ROBERTO LAY SON RODRIGUEZ
Type
applied research
Status
TERMINADO
Start Date
2013

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    Item type:Publication,
    Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion
    (2024)
    Abraham Urzua
    ;
    Sofía Catena
    ;
    Paulina Morales
    ;
    Guillermo Lay-Son
    <jats:p>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.</jats:p>
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