With recent technical advances, chromosome studies have become increasingly practical and useful. Two clinical syndromes associated with an extra chromosome in either the 13-15 (D) group1,2 or the 16-18 (E) group3-6 have been documented. The multiple congenital anomalies associated with these 2 trisomic states are apparently so severe that few of those affected survive. Thus, recognition of the clinical picture with confirmation by cytogenetic studies can provide significant prognostic information.
Report of a Case
The patient was born Aug. 14, 1961, in another hospital via elective cesarean section. The mother appeared full term, but at section had marked polyhydramnios. The birth weight was 4 lb. 4¼ oz. (about 1,935 gm.); length was 17.5 in.; head circumference 12.5 in., and chest circumference 11.5 in. It was promptly noted that the infant had a high-pitched cry and a peculiar combination of physical abnormalities. Those listed were (1) first toe on