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Cytogenetic investigations in cases of multiple developmental anomalies in children
Insights
Chromosomal abnormalities and gene mutations were identified in over a third of children with developmental anomalies. Environmental teratogenic factors also contributed to developmental issues in some cases.
Area of Science:
- Pediatric Genetics
- Developmental Biology
- Clinical Cytogenetics
Background:
- Developmental anomalies and disorders of sexual development present complex diagnostic challenges.
- Understanding the underlying genetic and environmental etiologies is crucial for accurate diagnosis and management.
Purpose of the Study:
- To investigate the cytogenetic and etiological factors contributing to developmental anomalies and sexual development disorders in a cohort of children.
- To identify the prevalence of chromosomal abnormalities, gene mutations, and teratogenic influences.
Main Methods:
- Cytogenetic analysis of lymphocyte cultures from 59 children.
- Karyotyping and chromosome banding techniques were employed where applicable.
- Detailed clinical evaluation and family history assessment, including exposure to teratogenic factors.
Main Results:
- Chromosomal abnormalities were detected in 18.6% of cases, including Down syndrome, Turner syndrome, Klinefelter syndrome, Edwards syndrome, and mosaicism.
- Gene mutations were identified in 13.6% of cases, associated with conditions like homocystinuria and chondrodystrophy.
- Hereditary malformations accounted for 10.2%, while teratogenic factors during pregnancy were implicated in 37.2% of cases with no family history.
Conclusions:
- A significant proportion of developmental anomalies and sexual development disorders have identifiable cytogenetic or etiological bases.
- Both genetic factors (chromosomal abnormalities, gene mutations, hereditary malformations) and environmental teratogens play critical roles.
- Further research utilizing advanced cytogenetic techniques is warranted to elucidate the etiology of unexplained cases.
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).