Cytogenetic investigations in cases of multiple developmental anomalies in children.

Abstract

The authors studied 59 children including 48 with multiple developmental anomalies and 11 with disturbances of sexual development. In 11 cases (18.6%) the following chromosomal abnormalities were found: in 5 cases of Down's syndrome, 3 cases of full trisomy G, 1 case of 46XX/47XYG+ mosaicism, and in 1 case translocation 46XYD--G--t (DqGq)+. In 3 cases Turner's syndrome was present, with 45XG in 2 cases and 45XO/46XX in the 3rd case. Klinefelter's syndrome was disclosed in 1 case (47XXY), true hermaphroditism with mosaicism 45XO/46XX in one case, and Edwards' syndrome in 1 case with 47XYE+. Multiple chromosome breaks were found in 2 children. In the remaining 46 cases cytogenetic investigations of lymphocyte cultures stained (without using the banding technique) failed to demonstrate any differences in the number and structure of the chromosomes. The following groups were isolated in this material: 8 cases (13.6%) of gene mutation determining systemic defects (homocystinuria, chondrodystrophy, and two cases of intestinal polyposis, adrenogenital syndrome and hereditary osteocartilagineous exostoses each), 6 cases of malformations of hereditary origin (10.2%)-- and 32 cases with negative family history (54.2%). In 12 cases of the last group (37.2%) a history of various teratogenic factors acting during pregnancy was elicited (viral and protozoan infections, drugs and other chemicals, quantitative and qualitative malnutrition, hypoxia, mechanical trauma, vibration).