The karyotype of a 1-year-old infant with retardation of psychomotor development and physical growth, microcephaly, corneal opacity, dislocated hips, talipes equinovarus, and puffy extremities revealed a deletion of the short arm of a submetacentric E chromosome, one of the two late replicating chromosomes in this group. Review of reported instances of similar deletions suggests that the phenotype of growth retardation, mental retardation, and a constellation of minor congenital anomalies may be associated with gross chromosomal deletions, irrespective of the specific chromosome involved.
|Original language||English (US)|
|Number of pages||7|
|Journal||Journal of Pediatrics|
|Publication status||Published - Sep 1966|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health