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Pure terminal duplication of the short arm of chromosome 19 in a boy with mild microcephaly
  1. S Andries1,
  2. D Sartenaer1,
  3. K Rack1,
  4. S Rombout1,
  5. D Tuerlinckx2,
  6. Y Gillerot1,
  7. L Van Maldergem1
  1. 1Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Loverval, Belgium
  2. 2Department of Paediatrics, Cliniques Universitaires de Mont-Godinne, Université Catholique de Louvain, Louvain, Belgium
  1. Correspondence to:
 Dr L Van Maldergem, Centre de Génétique Humaine, Institut de Pathologie et de Génétique, 41 Allée des Templiers, B-6280 Loverval, Belgium;
 vmald{at}skypro.be

https://doi.org/10.1136/jmg.39.10.e60

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    Duplication of chromosome 19, partial or complete, has rarely been described. Trisomy of its short arm (19p) was briefly reported in abstract form by Byrne et al1 in 1980 in a newborn patient with dysmorphism and intrauterine growth retardation and in 1992 by Salbert et al2 in a dysmorphic newborn male. The delineation of these two patients was hampered by deletion of the terminal band of chromosome 13 in the first case and partial deletion of distal chromosome 3q in the second case.

    CASE REPORT

    The infant presented here is the first and only child of non-consanguineous parents. The family history is unremarkable apart from epilepsy in the maternal grandmother. The pregnancy was uneventful with no intrauterine growth retardation. The mother and the father were aged 28 and 35 years at the time of birth. He was born at 41 weeks of gestation by spontaneous delivery. He sat alone at 6 months, walked at 17 months, and …

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