Clinical characteristics of patients
| ID | Karyotype | Sex | Age | Facial dysmorphism | Developmental delay | Skeletal anomalies | Behaviour | Eczema | Seizures | Congenital heart anomalies | Other | Previous reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| *Familial translocation—data represent a composite for all family members with an unbalanced der(2) karyotype. | ||||||||||||
| Ab, absences; Ag, aggression; AS, atrial stenosis; ASD, atrial septal defect; Aut, autism; B, brachymetaphalangism; CA, coarctation of the aorta; CAS, controlling, attention-seeking; Cl, fifth finger clinodactyly; Cr, craniosynostosis; D, bilateral dislocation of the hips; F, febrile; GA, generalised atonic; GM, grand mal; H, hyperkinesia; I, post-immunisations; L, abnormalities of the long bones; M, self-mutilating; Ob, obsessional; Os, osteoporosis; P, Perthes disease of the hip; PAD, pulmonary artery dilatation with left ventricular hypertrophy; PDA, patent ductus arteriosus; R, routine bound; S, scoliosis; SCD, receptive language and social communication disorders; VSD, ventricular septal defect. | ||||||||||||
| 74 | 46,XX,del(2)(q37.1) | F | 20 months | + | + | − | − | − | − | Hypotonia, lumbar lordosis | LM (Fisher et al16) | |
| 76 | 46,XX,del(2)(q37.1) | F | 18 years | + | + | B, L | − | − | − | Obesity, lymphoedema of legs | Power et al4 | |
| 78 | 46,XX,del(2)(q37.1) | F | 7 years | + | + | − | CAS | ++ | − | ASD, PDA | Recurrent infections | |
| 8490 | 46,XX,del(2)(q37.2) | F | 10 years | + | + | B, S | R | − | I | − | Umbilical hernia | |
| 12410 | 46,XY,del(2)(q37.1) | M | 32 years | + | ++ | Os | + | − | GM | − | Oedema and ulceration of legs | |
| 315 | 46,XY,del(2)(q37.1) | M | 4 years | + | + | − | H | − | − | − | Myopia | |
| 8491 | 46,XX,del(2)(q37.3) | F | 16 years | + | + | B, D, P | − | F | − | Hydrocephalus | ||
| 8493 | 46,XX,invdup(2)(q33q37) | F | 7 years | + | + | S, Cl | H, Ag, M | − | GA | PDA, PAD | Myopia, arachnodactyly | Bonaglia et al26 |
| 63 | 46,XX,invdup(2)(q36.2q37.3) | F | 9 years | + | + | Cl | − | F | − | Squint, glaucoma, recurrent infections | ||
| 75 | 46,XX,del(2)(q37.2) | F | 10 years | + | + | − | Aut | + | GM | ASD, CA | Neonatal hypercalcaemia | AW (Fisher et al16) |
| 80 | 46,XX,del(2)(q37.3) | F | 9 years | + | + | B, Cl | Ag | − | Ab | − | 2–3 toe syndactyly, joint laxity, squint, horseshoe kidney | |
| 213 | 46,XX,del(2)(q37.3) | F | 15 years | + | + | B, D, L, S | + | − | − | Joint laxity, myopia, squint | RA (Wilson et al2) | |
| 106 | 46,XX,del(2)(q37.3) | F | 15 months | Mild | Mild | − | − | − | AS, VSD | |||
| 127 | 46,XY,del(2)(q37.3) | M | 5 years | + | + | B | H, Ob | − | − | − | Inguinal hernias, recurrent infections | |
| 128 | 46,XX,del(2)(q37.3) | F | 11 years | + | + | B | − | − | − | Obesity, inguinal hernia, squint | ||
| 389 | 46,XX,del(2)(q37.3) | F | 22 years | Mild | Mild | B | − | − | − | |||
| 419/622* | t(2;8)(q37.3;q24.3) | N/A | N/A | + | ++ | B | H, Ag, M | + | + | − | Hernias, recurrent infections | Bijlsma et al7 |
| 10780 | 46,XX,del(2)(q37.3) | F | 12 years | + | + | B, Cr | − | GM | − | Squint, short stature, obesity | KW (Wilson et al2) | |
| 122 | 46,XX,del(2)(q37.3) | F | 6 years | + | + | B | SCD | − | − | − | Joint laxity, 2–3 toe syndactyly | |
| 53 | 46,XY,r(2)(p25.3q37.3) | M | 5 months | − | − | Cl | + | Ab | − | Microcephaly | ||