Phenotypic characteristics of affected and carrier subjects
| Subject | Age at symptom onset | Summary of head and neck paraganglioma findings | Associated conditions |
|---|---|---|---|
| *Information obtained through medical history and interview. | |||
| †Information obtained through medical history and interview is also confirmed by pathology and surgery reports. | |||
| 1, carrier* | No symptom at age 72 | No tumour detected | Stroke, carotid artery surgery |
| 2, affected* | 20 | Large unilateral carotid body tumour (not resected), visible, palpable lump in the neck | – |
| 6, affected* | 42 | Unilateral carotid body tumour (not resected), visible, palpable lump in the neck, difficulty swallowing | “Thyroid tumour” resected at age 24, lump in breast at age 48 |
| 7, affected* | 40 | Unilateral carotid body tumour (resected), | – |
| 9, affected† | 20 | Unilateral carotid body tumour (resected and confirmed by histology) | – |
| 13, carrier | Not applicable | Not applicable | Died of metastatic breast cancer at age 44 |
| 15, affected* | 13 | Carotid body tumour (resected), lost voice in teenage years | – |
| Sporadic case, affected† | 45 | Vagal and hypopharyngeal paraganglioma (resected and confirmed by histology) | – |