A prospective cytogenetic study of 36 cases of DiGeorge syndrome.
prospective_cohort · Level II
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- Record sourced from PubMed, PMID 1415264.
- Also identified by PMC identifier 1682842.
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Abstract
Cytogenetic analysis was carried out in a prospective series of 36 children with DiGeorge syndrome. High-resolution banding (> 850 bands/haploid set) was achieved in 30 cases. Monosomy 22q11.21-->q11.23 was found in 9 of these 30 cases. In each of these cases monosomy 22q11.21-->q11.23 resulted from an interstitial deletion and not from a translocation. No other chromosome abnormalities were seen.
Medical subject headings
- Chromosome Deletion
- Chromosomes, Human, Pair 22
- DiGeorge Syndrome
- Monosomy