Table 2.
Other medical conditions reported in 11 adults with 1q21.1 duplications
| Case | Ascertainment | Sex | Age | Gastrointestinal | Ears, nose, and throat | Musculoskeletal | Endocrine/metabolic | Other |
|---|---|---|---|---|---|---|---|---|
| Cases identified at our center | ||||||||
| 1 | SZ | F | 46 | Cholecystectomy | Recurrent tonsillitis and otitis media in childhood, tonsillectomy, tympanic membrane scarring | Carpal tunnel, cubitus valgus | Hypocalcemia | Bladder dysfunction, recurrent pneumonia in childhood |
| 2 | SZ | F | 62 | None | None | Carpal tunnel | Hypothyroidism | Cataracts, myopia, slight strabismus, benign hepatic cyst, mild ulnar neuropathy |
| 3 | SZ | M | 51 | Cholecystectomy, appendectomy | None | Cubitus valgus | Type 2 diabetes, hypercholesterolemia | Benign hepatic cyst |
| 4 | TOF | F | 28 | None | None | Bilateral heel cords, toe-walking | None | Frontal arachnoid cyst, mucous retention cysts (paranasal sinuses) |
| 5 | TOF | F | 34 | Gastroesophageal reflux disease | Tonsillectomy, seasonal sinusitis | Recurrent ankle sprain, chronic back pain syndrome, mild cubitus valgus | Polycystic ovarian syndrome | |
| 6 | TOF | F | 59 | None | Tonsillectomy, chronic sinusitis | Arthritis, thoracic scoliosis | Type 2 diabetes, hypercholesterolemia | Endometriosis |
| 7 | TOF | M | 52 | None | Hearing problem (acquired) | None | Type 2 diabetes, hypercholesterolemia | None |
|
| ||||||||
| Literature cases | ||||||||
| 10 | Parent | M | No congenital disease | |||||
| 18 | Parent | F | Cataract, glaucoma | |||||
| 20 | Parent | F | Congenital hip dysplasia, clubfeet | |||||
| 23 | Parent | M | Normal hands and feet | No growth delays | ||||
No further clinical information was available for literature cases 8, 9, 11–17, 19, 21–22, and 24–27 in Table 1.
Empty cells, unknown; F, female; M, male; SZ, schizophrenia; TOF, tetralogy of Fallot.