Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum
| Autor: | Laurence Cuisset, Luc Druart, Géraldine Viot, Jean-Michel Dupont, Fatma Abdelhedi, Vassilis Tsatsaris, Laila El Khattabi, Aziza Lebbar |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Cerebellar dysplasia Developmental Disabilities Trisomy Russell-Silver Syndrome Uniparental Heterodisomy Nervous System Malformations Cerebellum medicine Humans business.industry Mosaicism Silver–Russell syndrome Brain General Medicine Uniparental Disomy medicine.disease Uniparental disomy Silver-Russell Syndrome Dysplasia Cytogenetic Analysis Female Cerebellar hypoplasia (non-human) business Chromosomes Human Pair 7 |
| Zdroj: | American journal of clinical pathology. 142(2) |
| ISSN: | 1943-7722 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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