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Brief clinical report: ring-11 chromosome: phenotype-karyotype correlation with deletions of 11q
Insights
This study reports the second case of a ring-11 chromosome in an infant with congenital anomalies. The patient
Area of Science:
- Genetics
- Cytogenetics
- Pediatrics
Background:
- Ring chromosome 11 (r(11)) is a rare chromosomal abnormality.
- Previous cases reported minimal clinical findings.
- The genetic basis of r(11) and associated phenotypes requires further elucidation.
Observation:
- A female infant presented with congenital anomalies.
- Cytogenetic evaluation revealed a ring-11 chromosome.
- This case differed from the previous report, showing significant 11q material deficiency.
Findings:
- The patient's phenotype was associated with a substantial deficiency of 11q material.
- The deletion spans from band 11q24 to the telomere (qter).
- This finding supports the identification of a specific chromosome deletion syndrome, del(11q) syndrome.
Implications:
- The amount and location of deleted chromosomal material influence the phenotype in ring chromosome disorders.
- This case expands the understanding of the clinical spectrum of ring-11 chromosome.
- Defines a specific syndrome, del(11q) syndrome, linked to 11q24-qter deletion, aiding in diagnosis and genetic counseling.
Abstract:
The cytogenetic evaluation of a female infant with congenital anomalies led to the identification of the second reported case of a ring-11 chromosome. Unlike the previously described case, in which the patient had only minimal clinical findings and no demonstrable loss of material from the ring, our patient had numerous anomalies that were associated with a substantial deficiency of 11q material. The different phenotypes in these two cases represent variation in the amount and location of the chromosomal material lost during the genesis of the ring. The manifestations of this patient and the deletion of region q24 leads to qter from the ring-11 identify a specific chromosome deletion syndrome referred to as del (11q) syndrome.