Molecular and clinical studies in 8 patients with Temple syndrome
| Autor: | Jasmin Beygo, S. Schulz, Karin Buiting, G Gillessen-Kaesbach, Thomas Eggermann, Beate Albrecht, Miriam Elbracht, Susanne Morlot, Diana Mitter, C.M.A. van Ravenswaaij-Arts, G. Strobl-Wildemann |
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| Přispěvatelé: | Clinical Cognitive Neuropsychiatry Research Program (CCNP) |
| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Temple syndrome Adolescent Medizin Polymorphism Single Nucleotide Short stature REGION 03 medical and health sciences Maternal uniparental disomy Genetics medicine Humans Abnormalities Multiple Imprinting (psychology) Child Truncal obesity Genetics (clinical) Chromosomes Human Pair 14 imprinting disorder Muscular hypotonia business.industry Infant Newborn METHYLATION Infant Syndrome Uniparental Disomy Temple Syndrome CHROMOSOME 14 genomic imprinting INSIGHTS mosaicism 030104 developmental biology Child Preschool KAGAMI-OGATA SYNDROME Chromosomal region imprinting defect IMPRINTING DISORDERS Female PATERNAL ISODISOMY MATERNAL UNIPARENTAL DISOMY medicine.symptom SILVER-RUSSELL Genomic imprinting business 14Q32 |
| Zdroj: | Clinical Genetics, 93(6), 1179-1188. Wiley |
| ISSN: | 0009-9163 |
| DOI: | 10.1111/cge.13244 |
| Popis: | Temple syndrome (TS14, #616222) is a rare imprinting disorder characterised by phenotypic features including pre- and postnatal growth retardation, muscular hypotonia and feeding difficulties in infancy, early puberty and short stature with small hands and feet and often truncal obesity. It is caused by maternal uniparental disomies, paternal deletions and primary imprinting defects that affect the chromosomal region 14q32 and lead to a disturbed expression of imprinted genes in this region. Here, we present detailed clinical data of 8 patients with Temple syndrome, 4 with an imprinting defect, 2 with an imprinting defect in a mosaic state as well as 1 complete and 1 segmental maternal uniparental disomy of chromosome 14. |
| Databáze: | OpenAIRE |
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