We have experienced a case of 18q syndrome in a three day girl who had midfacial hypoplasia, abnormalities of external ear, atretic ear canal, prominent fingerprint whorls, foot deformity, hypotonia and congenital heart disease.
Chromosomal culture revealed long arm deletion of chromosome 18(46, XX, del(18q)21).
It is recommended that this syndrome is to be studied more, molecular genetically in the future, because many questions about the genetic factor contributed to the clinical manifestation are remained to be solved and there are many reports about
its
association with malignant diseases.
|