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Chromosome deletion and multiple cartilaginous exostoses
European Journal of Pediatrics
|March 1, 1980
Summary
Tricho-rhino-phalangeal (TRP) II syndrome may be caused by an 8q terminal deletion. This chromosomal abnormality should be investigated in TRP II patients with previously normal karyotypes.
Area of Science:
- Genetics
- Clinical Genetics
- Pediatric Endocrinology
Background:
- Tricho-rhino-phalangeal (TRP) syndrome is a rare genetic disorder.
- TRP type II, also known as Langer-Giedion syndrome, presents with distinct facial, skeletal, and ectodermal anomalies.
- The genetic basis for TRP II has been challenging to pinpoint in all cases.
Observation:
- A 13-year-old female presented with clinical features strongly suggestive of TRP II or Langer-Giedion syndrome.
- The patient's phenotype was notably similar to previously described cases of TRP II.
Findings:
- A terminal deletion on chromosome 8q (8q deletion) is proposed as the underlying cause for the patient's condition.
- This specific chromosomal abnormality warrants consideration in the differential diagnosis of TRP II.
Implications:
- The findings suggest that a terminal 8q deletion may be an underdiagnosed cause of TRP II.
- Further cytogenetic analysis, specifically searching for 8q deletions, is recommended in TRP II patients with normal karyotypes.
- This could refine diagnostic criteria and improve genetic counseling for affected families.