Literature DB >> 8042674

Child with Sotos phenotype and a 5:15 translocation.

C Maroun1, S Schmerler, R G Hutcheon.   

Abstract

We report on a 4-year-old girl with Sotos phenotype and a de novo balanced translocation between the long arms of chromosome 5 and chromosome 15 [46,XX,t(5,15)(q35;q22)]. We suggest a relationship between genetic material at 5q35 or 15q22 and the expression of an autosomal dominant gene.

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Year:  1994        PMID: 8042674     DOI: 10.1002/ajmg.1320500313

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


  1 in total

Review 1.  Genome sequencing and implications for rare disorders.

Authors:  Jennifer E Posey
Journal:  Orphanet J Rare Dis       Date:  2019-06-24       Impact factor: 4.123

  1 in total

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