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CHARGE association in a child with de novo inverted duplication (14)(q22-->q24.3)
Insights
A genetic study identified a novel chromosomal abnormality, an inverted duplication on chromosome 14q22-24.3, in a child with CHARGE association, suggesting a potential genetic locus for some associated anomalies.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- CHARGE association is a complex genetic disorder with multiple congenital anomalies.
- Identifying specific genetic loci is crucial for understanding disease mechanisms and diagnosis.
Observation:
- A 4-1/2 year old girl presented with features consistent with CHARGE association.
- She exhibited a de novo inverted duplication of chromosome 14q22-24.3.
- Clinical manifestations included iris colobomas, ventricular septal defect, choanal atresia, intellectual impairment, growth retardation, sensorineural deafness, low-set ears, and upslanting palpebral fissures.
Findings:
- The patient's chromosomal analysis revealed a unique inverted duplication on chromosome 14, specifically in the q22 to 24.3 region.
- No family history of similar conditions or parental chromosomal abnormalities were noted, indicating a de novo mutation.
- The observed anomalies align with known features of CHARGE association.
Implications:
- The findings suggest that the 14q22-24.3 region may harbor a gene or genes contributing to certain anomalies seen in CHARGE association.
- This discovery could refine genetic mapping and diagnostic approaches for CHARGE association.
- Further research into this specific chromosomal region is warranted to identify candidate genes.
Abstract:
We report on a 4-1/2 year old girl with apparent CHARGE association who had a de novo inverted duplication (14)(q22-->24.3), iris colobomas, ventricular septal defect, soft tissue choanal atresia, intellectual impairment, growth retardation, sensorineural deafness, apparently low set ears, and upslanting palpebral fissures. Family history was unremarkable and parental chromosomes were normal. Similarities between this and previously reported cases of 14q duplication suggest that a locus for a gene or genes causing some of the anomalies of CHARGE association may reside in the region 14q22 to 24.3.