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Hand involvement in 13q deletion syndrome
S I Grindel1, C Sandlin, V E Wood
1Loma Linda University, School of Medicine, California, USA.
Journal of Pediatric Orthopedics
|September 17, 1999
Summary
13q deletion, a rare chromosomal disorder, causes varied symptoms. This study details four cases of 13q deletion presenting with specific hand anomalies, contributing to understanding this condition.
Area of Science:
- Genetics
- Clinical Medicine
- Developmental Biology
Background:
- 13q deletion is a rare chromosomal abnormality associated with significant phenotypic variability.
- Reported cases are fewer than 100, highlighting its rarity in medical literature.
- Hand anomalies are a known, though variable, manifestation of 13q deletion.
Observation:
- This report focuses on four pediatric patients diagnosed with 13q deletion.
- All four patients presented with distinct hand anomalies.
- Observed anomalies included absent or hypoplastic thumbs, metacarpal synostoses, and brachyphalangy of the little finger's middle phalanx.
Findings:
- The study confirms the association between 13q deletion and hand malformations.
- The specific hand anomalies observed in these four cases add to the spectrum of known 13q deletion phenotypes.
- This case series provides further clinical data on the presentation of 13q deletion.
Implications:
- Increased awareness of 13q deletion and its potential hand anomalies is crucial for early diagnosis.
- Understanding these specific hand findings can aid in genetic counseling and patient management.
- Further research into genotype-phenotype correlations in 13q deletion is warranted.