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Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1]
L C Surh1, D H Ledbetter, F Greenberg
1Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.
American Journal of Medical Genetics
|October 1, 1991
Insights
A chromosomal abnormality, specifically an interstitial deletion on chromosome 18, was identified in a young boy. This genetic finding is associated with developmental delays and distinct physical features.
Area of Science:
- Genetics
- Pediatrics
- Developmental Biology
Background:
- A 27-month-old boy presented with a constellation of developmental and physical anomalies.
- These included mild developmental delay, growth delay, strabismus, midface hypoplasia, relative telecanthus, downslanting palpebral fissures, epicanthal folds, dental hypoplasia, and cardiac defects.
Purpose of the Study:
- To identify the underlying genetic cause of the observed clinical features in the patient.
- To correlate the specific chromosomal deletion with the patient's phenotype.
Main Methods:
- Clinical examination and assessment of developmental milestones.
- Karyotyping or chromosomal microarray analysis to detect structural abnormalities in the patient's chromosomes.
Main Results:
- An interstitial deletion of chromosome 18 was identified.
- The deletion specifically involved band q12.1 or q12.3 on chromosome 18.
Conclusions:
- The interstitial deletion of chromosome 18 (q12.1 or q12.3) is associated with the patient's complex phenotype.
- This finding contributes to the understanding of genotype-phenotype correlations in chromosomal deletion syndromes.
Abstract:
A 27-month old boy with mild developmental delay, growth delay, strabismus, midface hypoplasia, relative telecanthus, downslanting palpebral fissures, epicanthal folds, dental hypoplasia, and cardiac defects was found to have an interstitial deletion of chromosome 18 involving band q12.1 or q12.3