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D13 ring chromosome syndrome

A Mccandless, S Walker

Archives of Disease in Childhood

|June 1, 1976

Summary

This summary is machine-generated.

A rare ring D13 chromosome syndrome case is presented. Common features include microcephaly, intellectual disability, growth issues, and distinct facial characteristics.

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Area of Science:

Genetics
Clinical Medicine
Human Chromosome Abnormalities

Background:

Ring chromosome D13 syndrome is a rare chromosomal disorder.
Understanding its phenotypic spectrum is crucial for diagnosis and management.

Observation:

A specific case of ring D13 chromosome was identified and confirmed using trypsin banding.
A review of 21 reported cases was conducted to identify common clinical features.

Findings:

The most frequent features observed in ring D13 chromosome syndrome include microcephaly and intellectual disability.
Other common manifestations include intrauterine growth restriction, dysmorphic facial features (hypertelorism, epicanthus, broad nasal bridge, ear deformities), and male genital defects.

Implications:

This case and review contribute to the understanding of the ring D13 chromosome syndrome phenotype.
Accurate identification of these features aids in early diagnosis and genetic counseling for affected families.