A female infant with monosomy 21.
A female infant with total monosomy 21 identified by Q banding is described. The main clinical features were hypertonia, prominent occiput, hypertelorism, antimongoloid slant of the eyes, broad nose, "antimongoloid", character of dermatoglyphics. Both parents are phenotypically as well as karyotypically normal.
D000015:Abnormalities, Multiple / Q000235:genetics; D000782:Aneuploidy; D002904:Chromosomes, Human, 21-22 and Y; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype