[Various genetic aspects of X-linked mental retardation].
X-Linked Mental Retardation constitutes an important pathologic entity in genetics. The overall significance, history and background of the concept of X-Linked mental retardation is reviewed with a special mention to the cases referenced under the term non-specific X-Linked mental retardation. The concept of lod-score has brought some improvement in the clinical delineation of the X-Linked mental retardation syndromes with some recent reports of suggestive linkage studies. The fragile-X syndrome is discussed with a special focus on reports of X-linked mental retardation with X chromosomal deletions or duplications. Linkage and molecular studies are reported viewing genetic approaches based on restriction fragment length polymorphisms. DNA probes spanning the length of the X and Y chromosomes which may prove critical to the development of diagnostic tests are referred. Computer assistance for a compilation of clinical findings in the X-linked mental retardation syndromes is specified as a diagnostic review and assistance program to check on the various entities. A joint collaborative investigation is reported to ascertain families with X-linked mental retardation in order to develop direct and linkage studies for the diagnosis of there disorders.
Cadeira de Genética, Faculdade de Medicina de Lisboa.
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D004274:DNA, Recombinant; D003936:Diagnosis, Computer-Assisted; D008040:Genetic Linkage; D008607:Intellectual Disability / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome
D004274:DNA, Recombinant
Alguns aspectos genéticos do atraso mental ligado ao cromossoma X.