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Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation
- Source :
- Molecular syndromology. 8(3)
- Publication Year :
- 2016
-
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.
- 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
Subjects
Details
- ISSN :
- 16618769
- Volume :
- 8
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Molecular syndromology
- Accession number :
- edsair.doi.dedup.....5086acebbc53f3f34fc09f75ab9af62b