Literature DB >> 1640435

Balanced translocation (14;20) in a mentally handicapped child with cystinuria.

M Sharland1, M Jones, M Bain, R Chalmers, J Hammond, M A Patton.   

Abstract

A mentally handicapped 3 year old child with cystinuria is presented. Routine chromosomal analysis showed an apparently balanced de novo translocation in the child with breakpoints 14q22 and 20p13. Family studies suggested that the child is a type I/type II compound heterozygote for cystinuria. This translocation may indicate a possible locus for the gene for cystinuria.

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Year:  1992        PMID： 1640435      PMCID： PMC1016032     

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  7 in total

1.  Cystinuria: increased prevalence in patients with mental disease.

Authors:  C R Scriver; D T Whelan; C L Clow; L Dallaire
Journal:  N Engl J Med       Date:  1970-10-08       Impact factor: 91.245

2.  Intestinal absorption and renal extraction of cystine and cysteine in cystinuria.

Authors:  L E Rosenberg; J L Durant; J M Holland
Journal:  N Engl J Med       Date:  1965-12-02       Impact factor: 91.245

3.  Cystinuria: biochemical evidence for three genetically distinct diseases.

Authors:  L E Rosenberg; S Downing; J L Durant; S Segal
Journal:  J Clin Invest       Date:  1966-03       Impact factor: 14.808

4.  Cystinuria: genetic heterogeneity and allelism.

Authors:  L E Rosenberg
Journal:  Science       Date:  1966-12-09       Impact factor: 47.728

5.  Biochemical and genetic studies in cystinuria: observations on double heterozygotes of genotype I-II.

Authors:  C L Morin; M W Thompson; S H Jackson; A Sass-Kortsak
Journal:  J Clin Invest       Date:  1971-09       Impact factor: 14.808

6.  Ontogeny modifies manifestations of cystinuria genes: implications for counseling.

Authors:  C R Scriver; C L Clow; T M Reade; P Goodyer; C Auray-Blais; R Giguère; B Lemieux
Journal:  J Pediatr       Date:  1985-03       Impact factor: 4.406

7.  Childhood cystinuria in New South Wales. Results in children who were followed up after being detected by urinary screening in infancy.

Authors:  A Smith; J S Yu; D A Brown
Journal:  Arch Dis Child       Date:  1979-09       Impact factor: 3.791
  7 in total
  2 in total

1.  Evidence suggesting that the minimal functional unit of a renal cystine transporter is a heterodimer and its implications in cystinuria.

Authors:  S S Tate
Journal:  Amino Acids       Date:  1996-06       Impact factor: 3.520

2.  Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.

Authors:  M J Calonge; V Volpini; L Bisceglia; F Rousaud; L de Sanctis; E Beccia; L Zelante; X Testar; A Zorzano; X Estivill
Journal:  Proc Natl Acad Sci U S A       Date:  1995-10-10       Impact factor: 11.205
  2 in total

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