engleski

Deletion (8)(p21.1): clinical description of a new patient with mild phenotypic manifestations and normal development

Partial terminal or interstitial monosomy 8p, with various deletions ranging from 8p23 to p11.2 is described in more than 30 cases and is emerging as an established syndrome. Typical clinical manifestations are prenatal and postnatal growth deficiency, facial dysmorphic features, mental retardation, seizures, congenital heart defects and genital anomalies in the males. We present a 24-month-old boy with mild facial dysmorphism, moderate intrauterine and postnatal growth retardation, cryptorchid testes and so far normal psychomotor development. Although monosomy 8p seems to show distinct clinical features, our patient with the large 8p deletion demonstrates that this chromosomal abnormality may be easily clinically missed, since some cases may be associated with no major congenital anomalies and apparently normal psychomotor development.

8p monosomy; deletion; phenotype

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