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[Ring chromosome 18 46,XY,r(18)].

E Benito, A Serrano, F Moreno

Anales Espanoles De Pediatria

|February 1, 1987

Summary

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This study details a rare case of ring chromosome 18 in a young boy, presenting with multiple congenital anomalies and developmental delays. Genetic analysis confirmed the ring chromosome 18, with normal parental karyotypes.

Area of Science:

Genetics
Pediatrics
Clinical Dysmorphology

Background:

Ring chromosome 18 (r(18)) is a rare chromosomal abnormality.
It is associated with a range of developmental and physical abnormalities.
Understanding the phenotype associated with r(18) is crucial for diagnosis and management.

Observation:

A four-year-old boy presented with low birth weight, growth and developmental retardation, microcephaly, plagiocephaly, and horizontal nystagmus.
Additional findings included ambiguous genitalia, clinodactyly of the fifth finger, a distal axial triradius, and whorls pattern on 8 fingers in dermatoglyphic analysis.
Serum IgA levels were found to be significantly low (<3 mg/dl).

Findings:

The patient was diagnosed with ring chromosome 18 (r(18)).

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The boy exhibited a complex phenotype including developmental delays, dysmorphic features, and immunodeficiency (low IgA).

Karyotype analysis revealed normal karyotypes in both parents, suggesting a de novo occurrence of the ring chromosome.

Implications:

This case highlights the diverse clinical manifestations of ring chromosome 18.
Early identification and genetic counseling are important for families with r(18).
Further research into genotype-phenotype correlations in r(18) is warranted to improve patient outcomes.