Primary Article

Clinical Features Associated with the Chromosomal Deletion Syndrome Manifested by an 18 Ring (46,18r)

Authors: DANA M. BRASFIELD MD, SARA C. FINLEY MD, WAYNE H. FINLEY PhD, MD

Abstract

A case report of an infant with an 18 ring chromosome is presented and compared with the 24 other cases of this syndrome reported in the literature. Physical features of these patients are summarized in an attempt to make available a description of this syndrome so that diagnosis may be suspected after clinical examination of a child with congenital malformations. Once the diagnosis is made, the prognosis with regard to life span would indicate that these children may survive to adulthood but mental retardation and growth retardation will be consistent characteristics. Analysis of physical features and biochemical parameters revealed no evidence that a locus or loci controlling these factors were located on the No. 18 chromosome. This case indicates the need for cytogenetic studies in infants with multiple congenital defects of undetermined etiology.

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References