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Research Article
Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation.
  1. E Bocian,
  2. T Mazurczak,
  3. E Buława,
  4. H Stańczak,
  5. G Rowicka
  1. Department of Genetics, National Research Institute of Mother and Child, Warsaw, Poland.

    Abstract

    A case of triple mosaicism involving chromosome 18 is described in a girl with abnormal skin pigmentation similar to hypomelanosis of Ito. The karyotype is 46,XX, -18, + del(18)(p11.23-->pter)/46,XX, -18, + idic(18)(p11.23)/46,XX, -18, + r(18). The patient displays some clinical features of monosomy 18p and a few signs of trisomy 18q. Our case illustrates a non-random association of chromosomal mosaicism with abnormal skin pigmentation.

    https://doi.org/10.1136/jmg.30.7.614

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