Literature DB >> 2044854

Clinical and chromosome studies of three patients with Smith-Magenis syndrome.

J F de Rijk-van Andel1, C E Catsman-Berrevoets, J O van Hemel, A J Hamers.   

Abstract

The authors report three patients with Smith-Magenis syndrome; only 21 patients with this syndrome have been described previously in the literature. The syndrome is related to a deletion of chromosome 17p11 x 2, and differs from Miller-Dieker syndrome on clinical criteria and in that the latter is related to a deletion of 17p13 x 3.

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Year:  1991        PMID： 2044854     DOI： 10.1111/j.1469-8749.1991.tb14885.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN： 0012-1622            Impact factor:   5.449


  4 in total

1.  Eye movement tics.

Authors:  F Shawkat; C M Harris; M Jacobs; D Taylor; E M Brett
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2.  Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.

Authors:  R C Juyal; L E Figuera; X Hauge; S H Elsea; J R Lupski; F Greenberg; A Baldini; P I Patel
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

3.  Molecular analysis of deletion (17)(p11.2p11.2) in a family segregating a 17p paracentric inversion: implications for carriers of paracentric inversions.

Authors:  S P Yang; S I Bidichandani; L E Figuera; R C Juyal; P J Saxon; A Baldini; P I Patel
Journal:  Am J Hum Genet       Date:  1997-05       Impact factor: 11.025

Review 4.  Dystonia and chorea in acquired systemic disorders.

Authors:  J L Janavs; M J Aminoff
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-10       Impact factor: 10.154
  4 in total

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