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Research Article
A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia.
  1. G Calabrese,
  2. P G Franchi,
  3. L Stuppia,
  4. R Mingarelli,
  5. C Rossi,
  6. L Ramenghi,
  7. M Marino,
  8. E Morizio,
  9. R Peila,
  10. A Antonucci
  1. Istituto di Biologia e Genetica, Università di Chieti, Italy.

    Abstract

    A newborn infant is reported who had aganglionic megacolon, renal hypoplasia, severe growth retardation, generalised hypotonia, and various dysmorphic features. Chromosome analysis of lymphocytes and fibroblasts showed a ring chromosome 10 with breakpoints at p13-15 and q26. AluI digestion showed that the ring chromosome was monocentric. FISH with an alpha satellite probe specific for chromosome 10 showed one signal only in about 20% of interphase nuclei. It is suggested that aganglionic megacolon could result from dynamic somatic mosaicism owing to loss of the ring chromosome.

    https://doi.org/10.1136/jmg.31.10.804

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