Table 2

Clinical characteristics of patients

IDKaryotypeSexAgeFacial dysmorphismDevelopmental delaySkeletal anomaliesBehaviourEczemaSeizuresCongenital heart anomaliesOtherPrevious 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.
7446,XX,del(2)(q37.1)F20 months++Hypotonia, lumbar lordosisLM (Fisher et al16)
7646,XX,del(2)(q37.1)F18 years++B, LObesity, lymphoedema of legsPower et al4
7846,XX,del(2)(q37.1)F7 years++CAS++ASD, PDARecurrent infections
849046,XX,del(2)(q37.2)F10 years++B, SRIUmbilical hernia
1241046,XY,del(2)(q37.1)M32 years+++Os+GMOedema and ulceration of legs
31546,XY,del(2)(q37.1)M4 years++HMyopia
849146,XX,del(2)(q37.3)F16 years++B, D, PFHydrocephalus
849346,XX,invdup(2)(q33q37)F7 years++S, ClH, Ag, MGAPDA, PADMyopia, arachnodactylyBonaglia et al26
6346,XX,invdup(2)(q36.2q37.3)F9 years++ClFSquint, glaucoma, recurrent infections
7546,XX,del(2)(q37.2)F10 years++Aut+GMASD, CANeonatal hypercalcaemiaAW (Fisher et al16)
8046,XX,del(2)(q37.3)F9 years++B, ClAgAb2–3 toe syndactyly, joint laxity, squint, horseshoe kidney
21346,XX,del(2)(q37.3)F15 years++B, D, L, S+Joint laxity, myopia, squintRA (Wilson et al2)
10646,XX,del(2)(q37.3)F15 monthsMildMildAS, VSD
12746,XY,del(2)(q37.3)M5 years++BH, ObInguinal hernias, recurrent infections
12846,XX,del(2)(q37.3)F11 years++BObesity, inguinal hernia, squint
38946,XX,del(2)(q37.3)F22 yearsMildMildB
419/622*t(2;8)(q37.3;q24.3)N/AN/A+++BH, Ag, M++Hernias, recurrent infectionsBijlsma et al7
1078046,XX,del(2)(q37.3)F12 years++B, CrGMSquint, short stature, obesityKW (Wilson et al2)
12246,XX,del(2)(q37.3)F6 years++BSCDJoint laxity, 2–3 toe syndactyly
5346,XY,r(2)(p25.3q37.3)M5 monthsCl+AbMicrocephaly