Chromosome 7 Isodisomy in a Child with Silver-Russell Síndrome
Luis A. Méndez-Rosado,
Alicia Vaglio,
Roberto Lardoeyt- Ferrer
et al.
Abstract:Silver-Rusell syndrome is a rare genetic disease. There is evidence that the genetic causes of the disorder are heterogeneous, with predominant alterations in the imprinted regions of chromosomes 11 and 7, in addition to other genomic alterations, such as chromosomal structural aberrations, single nucleotide polymorphisms, copy number variations, and small insertions and deletions. The most prevalent clinical manifestations include prenatal and postnatal growth retardation, dysmorphic features, and feeding dif… Show more
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