Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients
Autor: | Asgeir Lande, Mette Kroken, Kai Rabben, Lars Retterstøl |
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Rok vydání: | 2017 |
Předmět: |
Male
0301 basic medicine congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Nails Malformed 030105 genetics & heredity Overweight Diagnosis Differential 03 medical and health sciences Intellectual Disability Intellectual disability Genetics medicine Humans Genetic Testing Imprinting (psychology) Child Genetics (clinical) Genetic testing Chromosomes Human Pair 14 medicine.diagnostic_test business.industry Infant Newborn Infant nutritional and metabolic diseases Uniparental Disomy medicine.disease Hypotonia Uniparental disomy nervous system diseases Phenotype 030104 developmental biology Thumb Child Preschool Chromosomal region Hallux Female medicine.symptom Differential diagnosis business Prader-Willi Syndrome |
Zdroj: | American Journal of Medical Genetics Part A. 176:175-180 |
ISSN: | 1552-4825 |
Popis: | The two imprinting syndromes Temple syndrome (TS14) and Prader-Willi syndrome (PWS) share many features in infancy and childhood. TS14 is an important, yet often neglected, differential diagnosis to PWS. We wanted to assess the frequency of TS14 among patients tested for PWS. In all samples submitted to our lab for genetic PWS testing during 2014 and 2015, we consecutively conducted additional analyses for TS14. A total of 143 samples were included. The most frequent indications for testing were developmental delay, overweight, and hypotonia. For TS14 testing, we performed a methylation-sensitive MLPA-kit detecting deletions and methylation aberrations in chromosomal region 14q32. TS14 was confirmed in 3 out of 143 patients (2.1%). In comparison, PWS was also confirmed in three patients. Brief clinical descriptions of the TS14 patients are presented. Temple syndrome is presumably underdiagnosed, and should be considered when testing children for PWS. |
Databáze: | OpenAIRE |
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