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Trigonocephaly and the 11q- syndrome
Annales De Genetique
|March 1, 1977
Summary
A seventh case of chromosome 11 distal long arm deletion is reported. This rare karyotypic abnormality is associated with trigonocephaly, a distinctive head shape, and other developmental features.
Area of Science:
- Genetics
- Clinical Dysmorphology
Background:
- Chromosome 11 deletions are rare genetic abnormalities.
- Understanding these deletions is crucial for diagnosing associated syndromes.
Observation:
- A seventh case of distal long arm deletion of chromosome 11 (del(11)(q23)) is presented.
- Trigonocephaly, a prominent forehead abnormality, is a consistent phenotypic feature.
Findings:
- The study reviews common developmental and dysmorphic features in seven reported cases.
- Trigonocephaly is the most noticeable peculiarity in these patients.
Implications:
- This case adds to the understanding of del(11)(q23) syndrome.
- Identifying common features aids in early diagnosis and genetic counseling for affected families.