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

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 th...

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Bibliografiske detaljer
Main Authors: Calabrese, G, Franchi, P G, Stuppia, L, Mingarelli, R, Rossi, C, Ramenghi, L, Marino, M, Morizio, E, Peila, R, Antonucci, A
Format: Artigo
Sprog:Inglês
Udgivet: 1994
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050128/
https://ncbi.nlm.nih.gov/pubmed/7837258
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