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Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.
Although clinical signs of thyroid dysfunction are usually absent in affected males, the disturbances in blood levels of thyroid hormones suggest the possibility of systematic detection through screening of high-risk populations.
Autism and maternally derived aberrations of chromosome 15q.
Among the first 100 cases enrolled in the South Carolina Autism Project, abnormalities of chromosome 15 have emerged as the single most common cause and four abnormalities identified include deletions and duplications of proximal 15q, which occurred on the chromosome inherited from the mother.
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
A recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms is reported, with a prevalence comparable to that of Williams, Angelman and Prader-Willi syndromes.
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
The coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR) are sequenced, the largest direct screen for constitutional disease-causing mutations thus far reported.
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease are identified.
Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.
A Consensus Conference utilizing available literature and expert opinion sponsored by the American College of Medical Genetics in October 1995 evaluated the rational approach to the individual with…
A novel X–linked gene, DDP, shows mutations in families with deafness (DFN–1), dystonia, mental deficiency and blindness
Using positional information from a patient with a 21-kb deletion in chromosome Xq22 and sensorineural deafness along with dystonia, a novel transcript lying within the deletion is characterized as a candidate for this complex syndrome.
Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28
The neurologic and clinical features of affected males from families with X-linked patterns of severe mental retardation, hypotonia, recurrent respiratory infection, and microduplication of Xq28 that consistently includes the MECP2 (methyl-CpG binding protein 2) gene are described.