Case Series: 2q33.1 Microdeletion Syndrome - Further delineation of the phenotype
| Autor: | Pamela L. Brock, Gordon C. Gowans, E J Taylor, Neil R. Friedman, Lara Cresswell, Pradeep C. Vasudevan, Elaine H. Zackai, M F Feingold, Jill A. Rosenfeld, Catharine J. Harris, Lina Basel-Vanagaite, Meena Balasubramanian, Aaron Theisen, Kath Smith, Rocio Moran, Michael J. Parker, Holly Feret |
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| Přispěvatelé: | Sheffield Children's NHS Foundation Trust, Schneider Children's Medical Center of Israel and Rabin Medical Center, Weisskopf Child Evaluation Center, University of Louisville, University Hospitals Leicester, Wessex Regional Genetics Laboratory, Salisbury Hospital NHS Trust, University of Illinois, Chicago, University of Illinois [Chicago] (UIC), University of Illinois System-University of Illinois System, Center for Pediatric Neurology, Neurological Institute, Cleveland Clinic, Cleveland Clinic, Department of Clinical Genetics, Cleveland Clinic, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Signature Genomic Laboratories, Spokane, WA |
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Male
Ligamentous laxity Adolescent Significant learning Chromosome Disorders Biology Bioinformatics 03 medical and health sciences Young Adult Cytogenetics Genetics medicine Humans In patient Clinical genetics Molecular genetics Sparse hair 10. No inequality Child Gene Genetics (clinical) In Situ Hybridization Fluorescence 030304 developmental biology 0303 health sciences Comparative Genomic Hybridization 030305 genetics & heredity Matrix Attachment Region Binding Proteins Syndrome Microdeletion syndrome medicine.disease Phenotype 3. Good health Child Preschool Chromosomes Human Pair 2 Female Chromosome Deletion Haploinsufficiency Transcription Factors |
| Zdroj: | Journal of Medical Genetics Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (5), pp.290. ⟨10.1136/jmg.2010.084491⟩ |
| ISSN: | 0022-2593 1468-6244 |
| DOI: | 10.1136/jmg.2010.084491⟩ |
| Popis: | International audience; Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome, clinical features of which include significant learning difficulties, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties and cleft or high palate. Haploinsufficiency of one gene within the deleted region, SATB2, has been suggested to be responsible for most of the features of the syndrome. We describe seven previously-unreported patients with deletions at 2q33.1, all partially overlapping the previously-described critical region for the 2q33.1 microdeletion syndrome. The deletions ranged in size from 35 kb to 10.4 Mb, with the smallest deletion entirely within the SATB2 gene. Patients demonstrated significant developmental delay and challenging behaviour, a particular behavioural phenotype that seems to be emerging with more reported patients with this condition. One patient in our cohort has a deletion entirely within SATB2 and has a cleft palate, whereas several patients with larger deletions have a high-arched palate. In addition, one other patient has significant orthopaedic problems with ligamentous laxity. Interestingly, this patient has a deletion that lies just distal to SATB2. The orthopaedic problems have not been reported previously and are possibly an additional feature of this syndrome. Overall, our report provides further evidence that the SATB2 gene is the critical gene in this microdeletion syndrome. In addition, because the individuals in our study range in age from 3 to 19 years, these patients will help define the natural progression of the phenotype in patients with this microdeletion. |
| Databáze: | OpenAIRE |
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