Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2
| Autor: | Alexander Asamoah, Heidi Thiese, J Marcadier, Beth S. Torchia, Sarah Dyack, S Shafer, Sarah Alliman, B Morash, Kathleen A. Leppig, Bassem A. Bejjani, Justine Coppinger, Robert T. Schultz, C Weaver, Allen N. Lamb, Pamela L. Brock |
|---|---|
| Rok vydání: | 2010 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Adolescent Colorectal cancer Genomic Instability Arachnodactyly Pregnancy Recurrence Genetics Medicine Humans Juvenile polyposis syndrome Hypertelorism Genetics (clinical) business.industry Chromosomes Human Pair 10 Genome Human Macrocephaly Infant Newborn Infant medicine.disease Hypotonia Human genetics Child Preschool Failure to thrive Female medicine.symptom Chromosome Deletion business |
| Zdroj: | Clinical genetics. 78(2) |
| ISSN: | 1399-0004 |
| Popis: | The identification of genomic imbalances in young patients can affect medical management by allowing early intervention for developmental delay and by identifying patients at risk for unexpected medical complications. Using a 105K-feature oligonucleotide array, we identified a 7.25 Mb deletion at 10q22.3q23.2 in six unrelated patients. Deletions of this region have been described in individuals with cognitive and behavioral abnormalities, including autistic features, and may represent a recurring genetic syndrome. All four patients in this study for whom clinical information was available had mild dysmorphic features and three had developmental delay. Of note is the emerging clinical phenotype in these individuals with similar dysmorphic features such as macrocephaly, hypertelorism, and arachnodactyly, and neurodevelopmental delay that includes failure to thrive, hypotonia, and feeding difficulties in the neonatal period, and receptive and expressive language delay with global neurodevelopmental delay after the neonatal period. However, there is no pattern of abnormalities, craniofacial, behavioral, or otherwise, that would have aroused clinical suspicion of a specific syndrome. Finally, the patients' deletions encompass BMPR1A but not PTEN, and these patients may be at risk for colon cancer and should be referred for appropriate prophylactic care and surveillance. Of the two patients in this study who had colonoscopy following the array results, neither had polyps. Therefore, the magnitude of the increased risk for colon cancer is currently unknown. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text