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An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome?
Insights
Ring chromosome 17 is a rare condition causing developmental delays, seizures, and distinctive physical features. Variations in clinical presentation are linked to specific breakpoints on chromosome 17.
Area of Science:
- Genetics
- Clinical Medicine
Background:
- Ring chromosome 17 is a rare chromosomal abnormality.
- This study investigates a case and reviews existing literature.
Observation:
- Common features include developmental delays, seizures, short stature, hypotonia, and microcephaly.
- Dermatoglyphic analysis revealed increased ulnar loops.
- Bilateral transverse hypothenar creases were observed in the case.
Findings:
- The clinical variability among patients with ring chromosome 17 may be attributed to differing breakpoint locations.
- Genital abnormalities were noted in two previously reported cases.
Implications:
- Understanding breakpoint variations is crucial for predicting clinical outcomes.
- Further research is needed to elucidate the genotype-phenotype correlations in ring chromosome 17.
- This case contributes to the understanding of rare chromosomal disorders.
Abstract:
A case of ring 17 chromosome in a 5-month-old male infant is investigated and compared with five previously reported cases. The findings commonly observed in these patients include mental and motor retardation, seizures, short stature, muscular hypotonia, and microcephaly among others. Dermatoglyphic studies showed an increased number of ulnar loops. More interestingly, bilateral transverse hypothenar creases were noted. Two of the reported cases also had unspecified genital abnormalities. The variation in clinical findings among these patients may be explained by a difference in the breakpoints on chromosome 17.