The D trisomy syndrome: a case report with a description of ocular pathology.
A male infant with trisomy of one of the 13-15, or D, group of autosomes is described. The infant survived for only a few hours and had the following congenital abnormalities: defect of the scalp and underlying vertex of the skull, hemangioma, microphthalmia, cleft palate, ulnar deviation of forearms and wrists with flexion deformity of the fingers, polydactyly of the feet, interauricular septal defect, cryptorchidism and polycystic kidneys. Retinal dysplasia was the major abnormality in the microphthalmic eye.The congenital anomalies caused by D trisomy are sufficiently characteristic for the chromosomal error to be suspected in a newborn infant. A chromosome analysis is advisable for confirmation of the diagnosis.
D000015:Abnormalities, Multiple; D002875:Chromosomes; D002972:Cleft Palate; D000013:Congenital Abnormalities; D003456:Cryptorchidism; D005123:Eye; D005385:Fingers; D006257:Head; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome; D014314:Trisomy
ABNORMALITIES; CHROMOSOMES; EYE