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Supernumerary small ring chromosome.

S Kaffe, H J Kim, L Y Hsu

Journal of Medical Genetics

|December 1, 1977

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A supernumerary ring chromosome was identified in a boy with mild intellectual disability and cleft palate. This extra genetic material, primarily centromeric heterochromatin, was found in blood and skin cells.

Area of Science:

* Human Genetics
* Cytogenetics
* Clinical Dysmorphology

Background:

* Investigating the genetic basis of developmental disorders.
* Characterizing chromosomal abnormalities in pediatric cases.

Observation:

* A 6-year-old boy presented with mild mental retardation and midline cleft palate.
* Analysis revealed a supernumerary small ring chromosome in 30% of peripheral leucocytes and 50% of skin fibroblasts.
* The remaining 46 chromosomes exhibited normal banding patterns.

Findings:

* Giemsa banding showed a densely staining region on the extra chromosome.
* C banding confirmed the ring chromosome comprised mainly centromeric constitutive heterochromatin.
* Parental karyotypes were normal, indicating a de novo origin for the ring chromosome.

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Implications:

* The ring chromosome may be associated with the patient's phenotype.
* Further studies are needed to elucidate the specific genes involved and the mechanism of ring chromosome formation.
* Highlights the importance of detailed cytogenetic analysis in diagnosing rare genetic syndromes.