PARTIAL TRISOMY 1 (Q42-]TER)

1 January 1980

journal article
research article

Vol. 18 (5) , 371-378

Abstract

Clinical findings on 3 closely related, severely malformed infants and a 20 wk old fetus with an identical partial trisomy of chromosome 1 (1q42 .fwdarw. ter) have made possible the delineation of a new syndrome. The typical manifestations of this syndrome are: severe intrauterine and postnatal developmental retardation, trigonocephaly with wide sutures and fontanels, characteristic facial features, colobomata of the iris, small hands and feet and early death.

This publication has 1 reference indexed in Scilit:

Partial trisomy 1q syndrome
Clinical Genetics, 2008