Article
[Ring chromosome 8: microcephaly, mental retardation and minor facial anomalies with adhesive behavioral phenotype].
Revista de neurologia - 1 Jan 2000
Bibas Bonet H, Fontenla M, Fauze R, G de Pinat I
Abstract excerpt
INTRODUCTION: Since the first description of ring chromosome 8 [r(8)] in 1973, only a few patients have been reported. In this report we present a child with this anomaly, and we compare his clinical manifestations with previously reported patients. CLINICAL CASE: A 12 year-old boy presented with low birth weight, mental retardation, microcephaly, short stature, hypotonia, and minor facial anomalies:...
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