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Research Article
Absence of constitutive heterochromatin in a partially identified supernumerary marker chromosome.
  1. G S Pai,
  2. G H Thomas,
  3. P J Benke

    Abstract

    A retarded child with multiple malformations was found to have a karyotype 47,XY,de1(11)(11 pter leads to q21:), +mar(11 qter leads to q21::?). The mitotically stable centric marker had no demonstrable C heterochromatin. Phenotype-karyotype correlation and the role of C heterchromatin in phenotypic effects are discussed.

    https://doi.org/10.1136/jmg.18.5.392

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