Various genetic aspects of X-linked mental retardation.

Authors

  • C Pinto Cadeira de Genética, Faculdade de Medicina de Lisboa.
  • C Marques

DOI:

https://doi.org/10.20344/amp.3193

Abstract

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.

Downloads

Download data is not yet available.

How to Cite

1.
Pinto C, Marques C. Various genetic aspects of X-linked mental retardation. Acta Med Port [Internet]. 1992 Jan. 30 [cited 2024 Nov. 14];5(1):49-57. Available from: https://actamedicaportuguesa.com/revista/index.php/amp/article/view/3193

Issue

Section

Arquivo Histórico