Article
Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion.
Clinical dysmorphology - 1 Jul 2024
Urzua Abraham, Catena Sofía, Morales Paulina, Lay-Son Guillermo
Abstract excerpt
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...
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