title: Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum.
abstract: OBJECTIVE
  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.
authors.affiliation: From the Cytogenetics Laboratory, APHP, Cochin Hospital, Paris, France; abdelhedi_f@yahoo.fr.
authors.forename: Fatma
authors.initials: F
authors.lastname: Abdelhedi
authors.affiliation: From the Cytogenetics Laboratory, APHP, Cochin Hospital, Paris, France;
authors.forename: Laila
authors.initials: L
authors.lastname: El Khattabi
authors.affiliation: Laboratory of Biochemistry and Molecular Genetics, APHP, Cochin Hospital, Paris, France; Paris Descartes University, Faculty of Medicine, Paris, France;
authors.forename: Laurence
authors.initials: L
authors.lastname: Cuisset
authors.affiliation: Paris Descartes University, Faculty of Medicine, Paris, France; Department of Gynecology-Obstetrics, APHP, Cochin Hospital, Paris, France; and.
authors.forename: Vassilis
authors.initials: V
authors.lastname: Tsatsaris
authors.affiliation: Paris Descartes University, Faculty of Medicine, Paris, France; Department of Gynecology-Obstetrics, APHP, Cochin Hospital, Paris, France; and.
authors.forename: Geraldine
authors.initials: G
authors.lastname: Viot
authors.affiliation: Cytogenetics, Biomnis Laboratory, Paris, France.
authors.forename: Luc
authors.initials: L
authors.lastname: Druart
authors.affiliation: From the Cytogenetics Laboratory, APHP, Cochin Hospital, Paris, France; Paris Descartes University, Faculty of Medicine, Paris, France;
authors.forename: Aziza
authors.initials: A
authors.lastname: Lebbar
authors.affiliation: From the Cytogenetics Laboratory, APHP, Cochin Hospital, Paris, France; Paris Descartes University, Faculty of Medicine, Paris, France;
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Dupont
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology*; D002531:Cerebellum / Q000002:abnormalities; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D020732:Cytogenetic Analysis; D002658:Developmental Disabilities / Q000175:diagnosis; D005260:Female; D006801:Humans; D009030:Mosaicism; D009421:Nervous System Malformations / Q000175:diagnosis; D056730:Silver-Russell Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*; D024182:Uniparental Disomy / Q000235:genetics*
keywords: Cerebellar dysplasia; Maternal heterodisomy 7; Prenatal trisomy 7; Silver-Russell syndrome