Atlas of X-Linked Intellectual Disability Syndromes by Roger E. Stevenson
By Roger E. Stevenson
The Atlas of X-Linked highbrow incapacity Syndromes is a finished and up to date precis of the clinically designated issues attributable to genes at the X chromosome. medical and laboratory info on a hundred and fifty syndromes are offered in a concise and constant demeanour. each one syndrome is outlined and data is equipped on somatic positive aspects, progress and improvement, neurological indicators, cognitive functionality, imaging and different laboratory findings, and whilst attainable, the character and localization of the liable gene. Craniofacial and different somatic findings are widely illustrated. A differential matrix accompanies every one syndrome description to aid the reader in choosing different X-linked syndromes with overlapping gains. person syndrome entries are supplemented with nineteen appendices that determine syndromes with universal positive aspects and supply the site or mapping limits and serve as of the liable genes.
The authors have huge adventure within the medical and laboratory delineation of X-linked highbrow incapacity. they've got defined new syndromes, domestically mapped sickness loci at the X chromosome, and pointed out the genes answerable for X-linked syndromes.
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Extra info for Atlas of X-Linked Intellectual Disability Syndromes
A mild microcytic anemia may be present. Inclusions in erythrocytes stained with brilliant cresyl blue for hemoglobin H (β 4 tetramers) or hemoglobin electrophoresis offer convenient methods for screening for AlphaThalassemia Intellectual Disability syndrome. However, many cases do not have significant enough levels of HbH to be detected by electrophoresis and erythrocyte inclusions may be rare, necessitating repeated screening. Other cases may lack hemoglobin abnormalities altogether. Diagnostic confirmation depends on mutational analysis of the responsible gene.
Microcephaly, intractable seizures with onset soon after birth, poor temperature regulation, chronic diarrhea, and abnormal genitalia comprise the clinical phenotype. Agenesis of the corpus callosum and lissencephaly with excessive thinness of the cerebral cortex is demonstrated by brain imaging. The ARX mutations predominantly truncate the protein, although missense mutations affecting different domains have been found in one-fourth of cases. West Syndrome (XLID-Infantile Spasms, OMIM 308350).
Severe impairment, with few achieving the rudiments of speech. Neurological Findings. Severe impairment of neurological function is obvious from early infancy. Seizures of a wide variety (infantile spasms, generalized seizures, staring spells) occur, in some cases beginning as early as the first day of life. The EEG shows the characteristic burst-suppression pattern of hypsarrhythmia, other seizure discharges, and asynchrony between the cerebral hemispheres. Imaging. Agenesis of the corpus callosum, cerebral asymmetry with cortical dysplasia, neuronal migration abnormalities, enlarged lateral ventricles, choroid plexus cysts, cerebellar hypoplasia, and posterior fossa cysts may be demonstrated.