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Research Article
Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter.
  1. N Morichon-Delvallez,
  2. A L Delezoide,
  3. M Vekemans
  1. Service d'Histologie, Embryologie et de Cytogénétique, Hôpital Necker-Enfants, Malades, Paris, France.

    Abstract

    We describe here a fetus with holoprosencephaly and signs of caudal deficiency sequence. Chromosome examination showed a de novo balanced reciprocal translocation (7;22) (q36;q11) with loss of the derivative chromosome 22 in 50% of the cells examined. The present report and available published data indicate that the terminal region of the long arm of chromosome 7 contains genes implicated in the development of the central nervous system and the caudal region.

    https://doi.org/10.1136/jmg.30.6.521

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