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Updated: Aug 11, 2026

07:42
Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
[Cytogenetic investigations in 817 dysmorphic babies]
Summary
Cytogenetic analysis of 817 infants revealed chromosomal aberrations in 267, including Down syndrome and autosomal/gonosomal abnormalities. Pericentric inversion of chromosome 9 was linked to dysmorphic features in some cases.
Area of Science:
- Clinical Genetics
- Human Cytogenetics
- Pediatric Dysmorphology
Context:
- Investigated 817 dysmorphic children under one year of age using G-, C-, and Q-banding techniques.
- Established criteria for dysmorphia included growth retardation, malformations, CNS dysfunction, and ambiguous genitalia.
Purpose:
- To cytogenetically analyze dysmorphic infants to identify chromosomal aberrations.
- To evaluate the diagnostic efficiency of dysmorphic signs in cytogenetic studies.
- To investigate the role of chromosome 9 pericentric inversion in dysmorphic syndromes.
Summary:
- Identified 184 cases of Down syndrome, 54 autosomal aberrations, and 29 gonosomal aberrations.
- Discovered pericentric inversion of chromosome 9 in 16 patients, suggesting its etiological role in unspecified dysmorphic syndromes.
- Highlighted the importance of dysmorphic sign evaluation in increasing cytogenetic study efficiency.
Impact:
- Early detection of chromosomal aberrations aids in accurate diagnosis and prognosis.
- Identifying carrier family members facilitates genetic counseling and prevention strategies.
- Suggests chromosome 9 pericentric inversion as a significant factor in dysmorphic syndromes.
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