Publications by authors named "R A Beddow"
Article Synopsis
- - Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a serious birth defect often linked with other abnormalities, but genetic testing only confirms a diagnosis in a small percentage of cases.
- - In a study involving 67 patients, only 11 (16%) received a definitive or probable genetic diagnosis, indicating that the reasons behind EA/TEF may be more complex and involve multiple genetic and environmental factors.
- - The research identified specific genetic variants related to certain genes (like TCF4 and FANCA) that may contribute to the EA/TEF conditions, providing new insights into its development.
Article Synopsis
- Congenital anomalies of the kidney and urinary tract (CAKUT) are a major health issue for children, often leading to chronic kidney disease, and this study investigates the genetic causes of CAKUT related to a specific microdeletion on chromosome 1.
- Researchers analyzed eight patients with this microdeletion, identifying a gene linked to CAKUT and finding that most had serious kidney conditions and associated developmental issues, particularly in the brain and ears.
- The study emphasizes the role of the identified gene, PBX1, in proper kidney and brain development, recommending genetic testing in cases of kidney abnormalities during pregnancy to aid in counseling and management.
Parathyroid hormone-like hormone (PTHLH, MIM 168470) is a humoral factor, structurally and functionally related to parathyroid hormone, which mediates multiple effects on chondrocyte, osteoblast and osteoclast function. Mutations and copy number imbalances of the PTHLH locus and in the gene encoding its receptor, PTHR1, result in a variety of skeletal dysplasias including brachydactyly type E, Eiken syndrome, Jansen metaphyseal chondrodysplasia and Blomstrand type chondrodysplasia. Here we describe three individuals with duplications of the PTHLH locus, including two who are mosaic for these imbalances, leading to a hitherto unrecognized syndrome characterized by acro-osteolysis, cortical irregularity of long bones and metadiaphyseal enchondromata.
View Article and Find Full Text PDFDiagnosis of distal 22q11.2 deletion syndrome in a patient with a teratoid/rhabdoid tumour.
Eur J Med Genet
September 2011
We report an 18 year old patient with mild intellectual disability who was diagnosed with a late onset teratoid/rhabdoid tumour by histological and immunohistochemical studies. Array-CGH studies, performed on a peripheral blood sample, showed a 3.4Mb deletion of chromosome 22q11.
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