Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Neonatal Silver-Russell syndrome assumed to result from maternal uniparental heterodisomy of chromosome 7

  • Kang, Yoongu (Department of Pediatrics, Hanyang University Medical Center, Hanyang University College of Medicine) ;
  • Kim, Jinsup (Department of Pediatrics, Hanyang University Medical Center, Hanyang University College of Medicine) ;
  • Lee, Hyun Ju (Department of Pediatrics, Hanyang University Medical Center, Hanyang University College of Medicine) ;
  • Park, Hyun Kyung (Department of Pediatrics, Hanyang University Medical Center, Hanyang University College of Medicine)
  • Received : 2020.05.30
  • Accepted : 2020.07.24
  • Published : 2020.12.31
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Abstract

Silver-Russell syndrome (SRS) is a rare genetic disorder characterized by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, a triangular face, body asymmetry, and feeding difficulties. It is primarily diagnosed according to a clinical scoring system; however, the clinical diagnosis is confirmed with molecular testing, and the disease is stratified into the specific molecular subtypes. SRS is a genetically heterogeneous condition. The major molecular changes are hypomethylation of imprinting control region 1 in 11p15.5 and maternal uniparental disomy of chromosome 7 (UPD(7)mat). Therefore, first-line molecular testing should include methylation-specific approaches for these regions. Here, we report an extremely low birth weight (ELBW) infant with intrauterine growth retardation, postnatal growth retardation, and dysmorphic facial appearance-characteristics consistent with the clinical diagnostic criteria of SRS. Methylation-specific molecular genetic analysis revealed UPD(7)mat, while the loss of heterozygosity was not detected on chromosomal microarray analysis. We present a case of SRS with suspected uniparental heterodisomy of chromosome 7 in an ELBW infant.

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References

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