Related Experiment Videos
Clinical phenotype associated with terminal 2q37 deletion
B Conrad1, G Dewald, E Christensen
1Department of Maternal-Fetal Medicine, United Hospital, St. Paul, Minnesota, USA.
Clinical Genetics
|September 1, 1995
Summary
Children with terminal 2q deletions often show developmental delay, macrocephaly, and cardiac issues. High-resolution banding helps diagnose these small chromosomal deletions.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Terminal deletions of chromosome 2 long arm (2q) are rare chromosomal abnormalities.
- These deletions can lead to a spectrum of congenital anomalies and developmental issues.
- Previous studies have documented various clinical features associated with 2q terminal deletions.
Observation:
- This study describes three children with del(2)(q37) and compares their clinical findings to previously reported cases.
- Commonly observed features include developmental delay, macrocephaly, frontal bossing, a depressed nasal bridge, and cardiac anomalies.
- Hypotonia and repetitive behaviors were also noted during development.
Findings:
- Developmental delay is a consistent finding in children with 2q terminal deletions, although facial characteristics can be variable.
- High-resolution chromosomal banding is an effective method for identifying small terminal deletions on chromosome 2.
Implications:
- Accurate diagnosis of 2q terminal deletions through cytogenetic analysis aids in genetic counseling and family planning.
- Early identification of developmental delay and associated anomalies allows for timely intervention and support.
- Further research into genotype-phenotype correlations can refine understanding of the specific genes involved in 2q37 deletions.