Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum.

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.

• Authors: Fatma Abdelhedi, Laila El Khattabi, Laurence Cuisset, Vassilis Tsatsaris, Geraldine Viot, Luc Druart, Aziza Lebbar, Jean-Michel Dupont
• Journal: American journal of clinical pathology (Am J Clin Pathol) Vol. 142 Issue 2 Pg. 248-53 (Aug 2014) ISSN: 1943-7722 [Electronic] England
• PMID: 25015868 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright© by the American Society for Clinical Pathology.

Topics

• Adult
• Brain (pathology)
• Cerebellum (abnormalities)
• Chromosomes, Human, Pair 7 (genetics)
• Cytogenetic Analysis
• Developmental Disabilities (diagnosis)
• Female
• Humans
• Mosaicism
• Nervous System Malformations (diagnosis)
• Silver-Russell Syndrome (complications, diagnosis, genetics)
• Trisomy (genetics)
• Uniparental Disomy (genetics)