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J Med Genet. 1994 Oct;31(10):804-6.

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

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  • 1Istituto di Biologia e Genetica, Universit√† di Chieti, Italy.


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.

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