Literature DB >> 144078

Chromosomal mosaicism in Down's syndrome: a diagnostic challenge.

R L Ladda, M J Maisels, J H Dossett, Y Dobelle.   

Abstract

In individuals with mosaicism for trisomy 21, phenotype-karyotype correlations are unpredictable. Two patients are described--one with typical features of Down's syndrome and the other with severe mental retardation only. Both had normal karyotypes in their peripheral lymphocytes but high percentages of trisomic cells in skin fibroblasts.

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Year:  1977        PMID: 144078     DOI: 10.1111/j.1469-8749.1977.tb08001.x

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


  1 in total

1.  Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes.

Authors:  R A Pagon; J G Hall; S L Davenport; J Aase; T H Norwood; H W Hoehn
Journal:  Am J Hum Genet       Date:  1979-01       Impact factor: 11.025

  1 in total

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