Table 1

 Phenotypic characteristics of affected and carrier subjects

SubjectAge at symptom onsetSummary of head and neck paraganglioma findingsAssociated 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 72No tumour detectedStroke, carotid artery surgery
2, affected* 20Large unilateral carotid body tumour (not resected), visible, palpable lump in the neck
6, affected* 42Unilateral 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* 40Unilateral carotid body tumour (resected),
9, affected 20Unilateral carotid body tumour (resected and confirmed by histology)
13, carrier Not applicableNot applicableDied of metastatic breast cancer at age 44
15, affected* 13Carotid body tumour (resected), lost voice in teenage years
Sporadic case, affected 45Vagal and hypopharyngeal paraganglioma (resected and confirmed by histology)