Neonatal Silver-Russell syndrome assumed to result from maternal uniparental heterodisomy of chromosome 7open access
- Authors
- Park, Hyun Kyung; Kang, Yoongu; Kim, Jinsup; Lee, Hyun Ju
- Issue Date
- Dec-2020
- Publisher
- 대한의학유전학회
- Citation
- Journal of Genetic Medicine, v.17, no.2, pp.83 - 88
- Indexed
- KCI
- Journal Title
- Journal of Genetic Medicine
- Volume
- 17
- Number
- 2
- Start Page
- 83
- End Page
- 88
- URI
- https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/190405
- DOI
- 10.5734/JGM.2020.17.2.83
- ISSN
- 1226-1769
- 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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