ABSTRACT
A child with monosomy for the distal part of the short arm of chromosome 3 is presented. Altered features include prenatal onset growth deficiency, postaxial polydactyly, ptosis, ear anomalies, and a triangular facial appearance. In addition to generalised delay in psychomotor development, specific problems in visual attention were present. Comparison with the previously reported case suggests that the phenotype observed constitutes a clinically recognisable pattern of malformation.
Subject(s)
Chromosome Deletion , Chromosomes, Human, 1-3/ultrastructure , Abnormalities, Multiple/genetics , Growth Disorders/genetics , Humans , Infant, Newborn , Male , PhenotypeABSTRACT
Trisomy 14q- syndrome is relatively new and needs further delineation. In comparing our case with other reported cases (Table 1), some similarities are seen. Although the comparison of our case of partial trisomy 14 with the other cases reported in the literature may not be entirely justified (in that the reciprocal translocations are not always identical), it is hoped that by doing so, we can further delineate the common features and prognosis of such individuals.
