The clinical and genetic picture of trisomy 18 (Edwards' syndrome)

Abstract

Abstract. Six patients with Edwards' syndrome were studied. One child (case 2) was found to have a structural anomaly of a B chromosome as well as an extra chromosome of pail" No. 18: ~7,X~ (,18+,. Case 3 showed additional malformations not commonly present in Edward's syndrome. Case 4 was a twin; the twin sister was clinically and chromosomally normal. In case 6, which came to our attention after the discovery of the banding technique, it was possible to diagnose as trisomy 18 unequivocally by this method. Some striking features of the dermatoglyphics and creases are discussed.

Neurological Disorders in Patients With Chromosomal Anomalies

“…These patients demonstrate a wide range of brain disorders: microcephaly, anencephaly, hypoplasia of the cerebellum, hydrocephaly, micropolygyrus, hypoplasia of the corpus callosum (Schinzel and Schmid 1971), absence of the falx cerebri, rachischisis (Shibata et al 1973a), holoprosencephaly (Shabtay et al 1976) and cyclopia (Lang et al 1976). Common is muscular hypotonia.…”