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:...
Topics
- Abnormalities, Multiple
- Adult
- Child
- Child Behavior
- Chromosomes, Human, Pair 8
- Face
- Female
- Hand Deformities, Congenital
- Humans
- Intellectual Disability
- Karyotyping
- Male
- Microcephaly
- Phenotype
- Ring Chromosomes