A male infant with monosomy 21.
A male infant with total monosomy 21 identified by Q-, G- and R-banding is described. His main symptoms are hypertonia, micrognathia, microphthalmus, imperforate anus, ambiguous external genitalia, floating and malopposed thumbs, overlying fingers, right clubfoot and growth retardation. Both parents are phenotypically as well as karotypically normal.
D000015:Abnormalities, Multiple; D001006:Anus, Imperforate / Q000235:genetics; D001789:Blood Group Antigens; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002904:Chromosomes, Human, 21-22 and Y; D003878:Dermatoglyphics; D005837:Genitalia, Male / Q000002:abnormalities; D006257:Head / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D009461:Neurologic Manifestations; D010641:Phenotype
D001789:Blood Group Antigens