Neonatal Silver-Russell syndrome assumed to result from maternal uniparental heterodisomy of chromosome 7
- Title
- Neonatal Silver-Russell syndrome assumed to result from maternal uniparental heterodisomy of chromosome 7
- Author
- 박현경
- Keywords
- Silver-Russell syndrome; Uniparental disomy; Genomic imprinting; Infant; Extremely low birth weight infant
- Issue Date
- 2020-12
- Publisher
- Korean Society of Medical Genetics and Genomics
- Citation
- Journal of Genetic Medicine, v. 17, No 2, Page. 83-88
- 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.
- URI
- https://www.e-kjgm.org/journal/view.html?doi=10.5734/JGM.2020.17.2.83https://repository.hanyang.ac.kr/handle/20.500.11754/173053
- ISSN
- 1226-1769; 2383-8442
- DOI
- 10.5734/JGM.2020.17.2.83
- Appears in Collections:
- COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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