1. Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation
- Author
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Silvano Bertelloni, Veronica Bertini, Alessia Azzarà, Angelo Valetto, Rossella Bruno, Teresa Mattina, Angela Michelucci, and Antonella Fogli
- Subjects
0301 basic medicine ,Genetics ,congenital, hereditary, and neonatal diseases and abnormalities ,business.industry ,Heterodisomy ,Robertsonian translocation ,Array CGH ,uniparental disomy 14 ,Hypoesthesia ,030105 genetics & heredity ,medicine.disease_cause ,Loss of heterozygosity ,03 medical and health sciences ,Failure to thrive ,medicine ,Original Article ,Differential diagnosis ,Imprinting (psychology) ,medicine.symptom ,business ,Truncal obesity ,Genetics (clinical) ,SNP array - Abstract
Maternal uniparental disomy of chromosome 14 (upd(14)mat) or Temple syndrome is an imprinting disorder associated with a relatively mild phenotype. The absence of specific congenital malformations makes this condition underdiagnosed in clinical practice. A boy with a de novo robertsonian translocation 45,XY,rob(13;14)(q10;q10) is reported; a CGH/SNP array showed a loss of heterozygosity in 14q11.2q13.1. The final diagnosis of upd(14)mat was made by microsatellite analysis, which showed a combination of heterodisomy and isodisomy for different regions of chromosome 14. Obesity after initial failure to thrive developed, while compulsive eating habits were not present, which was helpful for the clinical differential diagnosis of Prader-Willi syndrome. In addition, the boy presented with many phenotypic features associated with upd(14)mat along with hypoesthesia to pain, previously unreported in this disorder, and bilateral cryptorchidism, also rarely described. These features, as well as other clinical manifestations (i.e., truncal obesity, altered pubertal timing), may suggest a hypothalamic-pituitary involvement. A detailed cytogenetic and molecular characterization of the genomic rearrangement is presented. Early genetic diagnosis permits a specific follow-up of children with upd(14)mat in order to optimize the long-term outcome.
- Published
- 2016