A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia

Giuseppe Calabrese, Paolo Guanciali Franchi, Liborio Stuppia, Rita Mingarelli, Carlo Rossi, Luca Ramenghi, Mario Marino, Elisena Morizio, Rita Peila, Adriano Antonucci, Giandomenico Palka

Research output: Contribution to journalArticlepeer-review


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 α 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.

Original languageEnglish
Pages (from-to)804-806
Number of pages3
JournalJournal of Medical Genetics
Issue number10
Publication statusPublished - Oct 1994

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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