AI Article Synopsis
- This study discusses a rare case of a child with Silver-Russell syndrome (SRS) combined with cerebellar dysplasia, linked to low-level trisomy 7 mosaicism and maternal uniparental disomy (UPD) of chromosome 7.
- Prenatal diagnosis identified trisomy 7 mosaicism, while postnatal assessments revealed dysmorphic features typical of SRS, severe psychomotor delays, and brain imaging showcasing cerebellar abnormalities.
- The findings suggest that the unusual combination of SRS and cerebellar dysplasia may be influenced by the presence of trisomy 7 mosaicism, highlighting the need for cytogenetic testing to understand similar cases better.
Article Abstract
Objectives: We report here the unusual association of Silver-Russell syndrome (SRS) and cerebellar dysplasia with trisomy 7 mosaicism and maternal uniparental disomy of chromosome 7 [UPD(7)m].
Methods: Low-level trisomy 7 mosaicism was diagnosed prenatally on amniocytes, and UPD(7)m was confirmed after birth.
Results: Medical examination at birth showed dysmorphic facial features of SRS. Cytogenetic analysis on several tissues and cells confirmed mosaic trisomy 7. Unusual severe psychomotor retardation, hypotonia, and choreoathetoid movement were noted at 6 months. Brain magnetic resonance imaging showed both cerebellar hypoplasia and dysplasia.
Conclusions: This unusual association of SRS and dysplasia of the cerebellum might be related to the presence of the trisomy 7 mosaicism on the cerebellum. Our observation strengthens the hypothesis that the phenotype observed in patients with SRS with UPD(7)m might also result from an undetected low level of trisomy 7 mosaicism that could best be revealed by performing cytogenetic investigations.
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| http://dx.doi.org/10.1309/AJCPBLMPRXKU1JUE | DOI Listing |
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