Literature DB >> 2872982

Deleted ring chromosome 22 in a mentally retarded boy.

K H Gustavson, W Arancibia, U Eriksson, L Svennerholm.   

Abstract

A mentally retarded boy with a ring chromosome 22, where most of band q13 was deleted, is reported. The fact that the leucocyte beta-galactosidase and alpha-galactosidase B activities were normal, but the arylsulphatase A activity only half of the normal is consistent with a gene dosage effect and that the arylsulphatase A locus is located more distally, than the gene loci for the other two enzymes, in the deleted part of 22q13.

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Year:  1986        PMID： 2872982     DOI： 10.1111/j.1399-0004.1986.tb01264.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  5 in total

1.  Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).

Authors:  D R Romain; J Goldsmith; H Cairney; L M Columbano-Green; R H Smythe; R G Parfitt
Journal:  J Med Genet       Date:  1990-09       Impact factor: 6.318

Review 2.  The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy.

Authors:  M L Barth; A Fensom; A Harris
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

Review 3.  Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.

Authors:  K Narahara; Y Takahashi; M Murakami; K Tsuji; Y Yokoyama; R Murakami; S Ninomiya; Y Seino
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

4.  Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22.

Authors:  M B Coulter-Mackie; J Rip; M D Ludman; J Beis; D E Cole
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

5.  Ring chromosome 22: a review of the literature and first report from India.

Authors:  S Mahajan; A Kaur; J Singh
Journal:  Balkan J Med Genet       Date:  2012-06       Impact factor: 0.519
  5 in total

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