Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion

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dc.contributor.authorUrzua, Abraham
dc.contributor.authorCatena, Sofia
dc.contributor.authorMorales, Paulina
dc.contributor.authorLay-Son, Guillermo
dc.date.accessioned2025-01-20T16:16:48Z
dc.date.available2025-01-20T16:16:48Z
dc.date.issued2024
dc.description.abstractSilver-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.
dc.description.funderNational Fund for Health Research and Development (FONIS) of the National Commission for Scientific and Technological Research (CONICYT)
dc.fuente.origenWOS
dc.identifier.doi10.1097/MCD.0000000000000483
dc.identifier.eissn1473-5717
dc.identifier.issn0962-8827
dc.identifier.urihttps://doi.org/10.1097/MCD.0000000000000483
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/90565
dc.identifier.wosidWOS:001236196100003
dc.issue.numero3
dc.language.isoen
dc.pagina.final109
dc.pagina.inicio105
dc.revistaClinical dysmorphology
dc.rightsacceso restringido
dc.subject11p duplication
dc.subject11q deletion
dc.subjectgenetic counseling
dc.subjecthypospadias (HP:0000047)
dc.subjectintrauterine growth retardation (HP:0001511)
dc.subjectpericentric inversion
dc.subjectRussell-Silver syndrome
dc.subjectSevere failure to thrive (HP:0001525)
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleSilver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion
dc.typeartículo
dc.volumen33
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
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