Partial trisomy 1 (q42 leads to ter).
Clinical findings on three closely related, severely malformed infants and a 20-week-old fetus with an identical partial trisomy of chromosome 1 (1q42 leads to 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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000022:Abortion, Spontaneous / Q000235:genetics; D002900:Chromosomes, Human, 1-3; D003103:Coloboma / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000235:genetics; D005317:Fetal Growth Retardation / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014314:Trisomy