45, X/46, XY Chromosome Mosaic with Features of the Russell‐Silver Syndrome: a Case Report with a Review of the Literature

Abstract

SUMMARY A 45, X/46, XY chromosome mosaic is reported in a phenotypic boy fulfilling the criteria for the diagnosis of Russell‐Silver syndrome. Attention is drawn to the relationship between these conditions and congenital asymmetry, in that 45, X/46, XY mosaic and congenital asymmetries share an extremely high incidence of malignancies arising in the organs developing from the urogenital ridge. RÉSUMÉ Mosaique chromosomigue 45, X/46, XY et manifestations du syndrome de Russell‐Silver Une mosaique 45, X/46, XY a été observée chez un garçon présentant phénotypiquement tous les critères permettant de porter le diagnostic du syndrome de Russell‐Silver. L'atten‐tion est attirée sur la relation entre ces conditions et l'asymétrie congénitale, en ce sens que la mosaique 45, X/46, XY et les asymétries congénitales ont en commun une incidence très élevée de tumeur maligne se développant sur les organes provenant de I'ébaucheurogénitale ZUSAMMENFASSUNG 45, X/46, XY Chromosomenmosaik mit Symptomen des Russell‐Silver Syndrom Es wird über ein 45, X/46, XY Mosaik bei einem phänotypisch männlichen Kind mit den Symptomen des Russell‐Silver Syndrom berichtet. Es wird darauf hingewiesen, daß eine Beziehung zwischen diesem Krankheitsbild und der angeborenen Asymmetric besteht, dahingehend daß beim 45, X/46, XY Mosaik und bei den angeborenen Asymmetrien extrem häufig bösartige Tumoren in den Urogenitalorganen auftreten. RESUMEN Mosaicismo con 45, X/46, XY cromosomas con aspecto de síndrome de Russell‐Silver Se aporta un mosaicjsmo con 45, X/46XY en un muchacho con fenotipo quz cumple los criterios para el diagnóstico de síndrome de Russell, Silver. Se atrae la atención sobre la relación entre estas alteraciones y la asimetría congéita, puesto que el mosaicismo y las asirnetrías congénitas comparten una incidencia extremadamente alta de tumores rnalignos desarrollados en los órganos provinentes de la cresta urogenital.

Phenotypic and genetic analysis of the Silver‐Russell syndrome

“…Of these, 50 were incompletely (1975) claimed they had 39 patients with SRS, but they described the physical findings of only eight in a previous paper (Tanner & Ham 1969)). Four cases were misdiagnosed, including a mother and daughter (Scott 1935, Gorlin & Meskin 1962, Vestermark 1970) (Case 2) and six had chromosomal abnormalities (Ferrier et al 1964, Hook & Yunis 1965, Tulinius et al 1972, Haslam et al 1973, Severi et al 1974, Chauvel et al 1975 1.3 %). The frequency of these malformations is so low that it is difficult to attribute any significance to them.…”

SHORT Syndrome : An End to the Diagnostic Odyssey

“…A second pathology was considered at this point as the phenotype was not fully explained by the karyotype findings. In view of some overlapping features with Russell-Silver Syndrome [9] and as per recommendation [12], methylation testing, uniparental disomy and Single Nucleotide Polymorphism (SNP) microarray analysis were performed; which turned out to be negative. Whole Exome Sequencing (WES) was not available locally and testing cost overseas was an issue.…”