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Fragile X Syndrome definition: A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. MENTAL RETARDATION occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
fragile X syndrome definition: X-linked recessive disorder characterized by mental retardation and large head, jaw, ears, and testes; premutation alleles in unaffected carriers give rise to significantly amplified repeats in affected progeny.
chromosome X fragility syndrome definition: An inherited disease characterized by the presence of a fragile site in the long arm of chromosome X. It is a common cause of mental retardation, second only in frequency to the Down syndrome (trisomy 21). The expression varies with mental retardation, macroorchidism, high-pitched voice, narrow face, long jaw, large ears, prominent forehead, highly arched narrow palate, and joint laxity as the most common characteristics. Microcephaly, typical facies, shortness of stature, and absence of macroorchidism characterize the Renpenning but not Martin-Bell syndrome. Major characteristics of the Martin-Bell syndrome include: Mental retardation with speech and behavioral disorders; connective tissue dysplasia; square facies with midfacial hypoplasia; slightly below normal height without intra- uterine growth retardation; average or above average head circumference; large and frequently anteverted ears; prominent forehead and supraorbital ridges; large nose; prominent mandible which becomes apparent during adolescence; joint laxity; minor limb anomalies; dermatoglyphic abnormalities; and seizures.
LUXOL FAST BLUE definition: Dye and chemical solution stains for medical purposes are mixtures of synthetic or natural dyes or nondye chemicals in solutions used in staining cells and tissues for diagnostic histopathology, cytopathology, or hematology.
Mobius Syndrome definition: A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)
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