A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia.
case_report · Level V
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- Record sourced from PubMed, PMID 7837258.
- Also identified by PMC identifier 1050128.
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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.
Medical subject headings
- Chromosomes, Human, Pair 10
- Kidney
- Megacolon
- Ring Chromosomes