Literature DB >> 2018057

Computerized approach to X-linked mental retardation syndromes.

J F Arena1, H A Lubs.   

Abstract

Photographs of normal and abnormal relatives with X-linked mental retardation (XLMR) and clinical data are combined in a Macintosh II computer system to provide an objective and versatile means of evaluating developmental abnormalities. The system includes a flatbed scanner for the entry of photographs and text, additional memory to enhance resolution of photographs, and several programs which facilitate searches for keywords. The primary advantages of the system include an easy interaction between descriptive words and photographs, and rapid comparison of whole faces and specific traits from many individuals. Information within families and between disorders can easily be compared in coded or uncoded fashion. Data from the 34 currently described syndromes emerging from the category of "non-specific XLMR" are being used to develop and test this approach. Neither standard photographs nor most computerized diagnostic systems permit this flexibility. Ultimately, this approach will provide a valuable diagnostic and teaching aid.

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Year:  1991        PMID: 2018057     DOI: 10.1002/ajmg.1320380205

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  5 in total

1.  Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11.

Authors:  G N Wilson; C S Richards; K Katz; G S Brookshire
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

Review 2.  X linked mental retardation.

Authors:  I A Glass
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

Review 3.  Programs, databases, and expert systems for human geneticists--a survey.

Authors:  C Fischer; S Schweigert; C Spreckelsen; F Vogel
Journal:  Hum Genet       Date:  1996-02       Impact factor: 4.132

4.  Linkage mapping of a severe X-linked mental retardation syndrome.

Authors:  H Malmgren; M Sundvall; N Dahl; K H Gustavson; G Annerén; C Wadelius; M L Steén-Bondeson; U Pettersson
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

5.  Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26).

Authors:  T H Huang; J F Hejtmancik; A Edwards; A L Pettigrew; C A Herrera; H A Hammond; C T Caskey; H Y Zoghbi; D H Ledbetter
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

  5 in total

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