Table 2. Clinical features in patients with a small, medium and large interstitial 13q deletion.
| Patient | Birth measurements | Age at examination | Measurements at examination | Psychomotor development | Recurrent infections | Heart anomalies | Limb defects | MRI/CT scan brain | Second malignancies/ tumors | Others | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ID | SSW | Weight | Length | HC | Length | Build | HC | Motor delay | Tonus | Speech delay | |||||||
| 3 | 39 | 3420 g (−0.2 SD) | 50 cm (-0.6 SD) | n.r. | 34 y | Normal | Obese | Macrocephaly | — | Normal | — | − | — | — | n.p. | Lipoma | — |
| 4 | 36 | 1900 g (−1.7 SD) | 46 cm (−0.4 SD) | n.r. | 6 y 8 m | Short stature | Thin | Microcephaly | Mild-moderate | Normal | Mild-moderate | − | — | — | Normal | — | Celiac disease, hypothyreosis |
| 5 | 40 | 4400 g (2.0 SD) | 52 cm (−0.7 SD) | n.r. | 4 y 11 ms | Normal | Normal | Normal | — | Normal | — | − | — | — | Normal | — | — |
| 6 | 40 | 3420 g (−0.9 SD) | 50 cm (−1.6 SD) | n.r. | 10 m | Normal | Normal | Normal | — | Normal | Too young | − | — | — | n.p. | — | — |
| 7 | 40 | 3400 g (−0.1 SD) | 52 cm (−0.4 SD) | 37.5 cm (2.3 SD) | 1 y 6 m | Normal | Normal | Normal | Mild-moderate | Hypoton | Mild-moderate | + | — | — | Normal | — | Constipation, feeding difficulties |
| 8 | 36 | 2470 g (−0.6 SD) | 44 cm (−1.9 SD) | 36.5 cm (2.8 SD) | 8 m | Short stature | Normal | Normal | Moderate | Hypoton | Too young | + | — | — | Normal | — | Constipation, feeding difficulties |
| 9 | 37 | 2058 g (−2.3 SD) | 51 cm (0.3 SD) | 36 cm (1.9 SD) | 12 y | Normal | Normal | Normal | Mild | Hypoton | Mild-moderate | + | — | Syndactyly 2/3 on feet, hypoplastic nail on toe | n.p. | — | Pectus excavatum |
| 10 | 38 | 3850 g (1.2 SD) | 54 cm (0.8 SD) | n.r. | 2 y | Short stature | Normal | Normal | Mild-moderate | Hypoton | n.r. | n.r. | — | — | Normal | — | — |
| 11 | 37 | 2240 g (−1.9 SD) | 45 cm (−2.3 SD) | 33 cm (−1.4 SD) | 3 y 11 m | Short stature | Thin | Microcephaly | Moderate-severe | Hypoton | Moderate-severe | + | — | Crowded toes | Hypoplastic corpus callosum | — | Constipation, feeding difficulties, retentio testis |
| 12 | 40 | 3500 g (−0.2 SD) | 54 cm (0.7 SD) | n.r. | 7 y 1 m | Normal | Thin | Normal | Mild-moderate | Hypoton | Mild | − | n.r. | — | Normal | — | Hypothyreosis |
| 13 | 38 | 3630 g (1.3 SD) | 53 cm (0.6 SD) | 37 cm (2.0 SD) | 6 y 10 m | Short stature | Normal | Normal | Mild-moderate | Hypoton | Mild-moderate | + | — | Flat-arched feet | Normal | Leucemia | Constipation, deafness |
| 14 | 42 | 4030 g (0.9 SD) | 52 cm (0.5 SD) | n.r. | 11 y 9 m | Normal | Normal | Macrocephaly | Mild | Normal | Mild | − | — | — | n.r. | — | — |
| 15 | 38 | 3070 g (−0.2 SD) | 51 cm (mean) | 33 cm (−0.7 SD) | 5 y 1 m | Tall stature | Obese | Normal | — | Normal | Mild | − | — | — | n.p. | — | — |
| 16 | 40 | 2110 g (−4.0 SD) | 46 cm (−3.7 SD) | 32 cm (−2.3 SD) | 12 y 7 m | Short stature | Thin | Microcephaly | Moderate-severe | Hypoton | No speech | + | ASD, VSD, pulmonary valve stenosis | — | n.p. | — | Epilepsia, deafness, hypodontia |
| 18 | 35 | 2400 g (−0.5 SD) | 49 cm (0.4 SD) | n.r. | 5 y | Normal | Normal | Normal | Mild-moderate | Hypoton | Mild-moderate | + | — | — | Hypoplastic corpus callosum | — | Two fused milk teeth |
| 19 | 40 | 3320 g (−1.2 SD) | 51 cm (−1.2 SD) | 35 cm (−0.7 SD) | 7 y 2 m | Normal | Normal | Normal | Mild-moderate | Hypoton | Mild-moderate | n.r. | — | — | n.r. | n.r. | Pectus excavatum |
| 20 | 40 | 2750 g (−2.1 SD) | 50 cm (−1.5 SD) | 36.3 cm (1.3 SD) | 1 m | n.r. | n.r. | n.r. | Mild | Hypoton | Too young | + | ASD | — | Partial aplasia of corpus callosum | — | Feeding problems, widely open fontanelles, laryngotracheomalacia, intestinal malrotation, mesenterium commune, mobile cecum |
| 21 | 35 | 3000 g (1.2 SD) | 49 cm (0.4 SD) | 36 cm (2.2 SD) | 10 y 10 m | Normal | Obese | Macrocephaly | — | Normal | Mild | − | — | Minimal postaxial polydactyly left hand | n.p. | Benigne bone tumor | Retentio testis, sister with postaxial polydactyly |
| 22 | 40 | 3100 g (−1.0 SD) | 49 cm (−2.1 SD) | n.r. | 4 y 11 m | Normal | Normal | Normal | Mild | Hypoton | — | − | — | Crowded toes | Normal | — | — |
| 24 | 32 | 1490 g (−0.1 SD) | 42 cm (0.2 SD) | 30 cm (0.1 SD) | 1 y 7 m | Short stature | Thin | Microcephaly | Mild | Hypoton | Too young | + | ASD | — | Normal | — | Constipation, feeding difficulties, pancreas annular |
| 27 | n.r. | 3100 g | 51 cm | 31 cm | n.r. | n.r. | n.r. | n.r. | n.r. | n.r. | n.r. | n.r. | n.r. | n.r. | n.r. | n.r. | n.r. |
| 35 | 40 | 4450 g (2.1 SD) | 49 cm (−2.0 SD) | 36 cm (0.4 SD) | 14 y | Normal | Normal | Macrocephaly | — | Normal | Mild | - | — | Clinodactyly third finger | Normal | — | Pectus carinatum |
| 38 | 40 | 3800 g (0.2 SD) | 52 cm (−0.7 SD) | n.r. | 21 y | Normal | Normal | Normal | — | Normal | — | + | — | — | n.p. | — | — |
| 40 | 36 | 3750 g (3.7 SD) | 51 cm (1.3 SD) | n.r. | 5 y 11 m | Normal | Obese | Normal | Mild | Hypoton | Mild | n.r. | — | Crowded toes | Large ventricles | Pinealoblastom (WHO IV) | Mild constipation |
| 41 | 38 | 2200 g (−2.7 SD) | 49 cm (−1.4 SD) | 32 cm (−2.5 SD) | 12 y 11 m | Normal | Normal | Normal | Mild | Normal | Mild | − | — | — | n.p. | — | Volvulus |
| 43 | n.r. | n.r. | n.r. | n.r. | 41 y | Normal | Normal | Normal | — | Normal | — | − | — | — | n.p. | — | — |
| 45 | 38 | 3520 g (0.4 SD) | 53 cm (0.4 SD) | 36.5 cm (1.3 SD) | 33 y | Normal | Normal | Macrocephaly | Mild | Normal | Mild | + | — | Sandal gap | n.p. | — | Pyloric stenosis |
| 47 | 41 | 3960 g (0.9 SD) | 54 cm (0.4 SD) | 35 cm (0.1 SD) | 5 m | Normal | Normal | Normal | — | Normal | Too young | − | — | Crowded toes | Normal | — | — |
| 48 | n.r. | 1850 g | 45 cm | n.r. | 2 y 2 m | Short stature | Normal | Microcephaly | Mild | Hypoton | n.r. | − | — | — | Normal | — | Intestinal malrotation |
| 51 | 40 | 3500 g (−0.7 SD) | n.r. | n.r. | 36 y | Normal | Normal | Normal | Mild | Hypoton | — | − | — | — | Normal | — | Radiation-associated lens changes left eye |
| 52 | n.r. | 3300 g | n.r. | n.r. | 45 y | Normal | Obese | Normal | — | Normal | — | − | — | — | Normal | Lipoma | — |
| 54 | 40 | 3150 g (−1.7 SD) | 51 cm (−1.2 SD) | 35 cm (−0.7 SD) | 6 y 9 m | Normal | Normal | Normal | Mild-moderate | Hypoton | Moderate | + | — | — | n.r. | — | Seizures |
| 57 | 41 | 4300 g (1.6 SD) | 56 cm (1.1 SD) | 39 cm (3.0 SD) | 2 y 4 m | Normal | Normal | Macrocephaly | Mild-moderate | Hypoton | Mild-moderate | + | — | Sandal gap, long great toes | n.r. | — | Died at age 2y 8 m of metastatic Rb |
| 58 | 42 | 3330 g (−1.1 SD) | 52 cm (−0.7 SD) | 36 cm (0.4 SD) | 6 y 7 m | Short stature | Normal | Normal | — | Normal | Mild | − | — | — | Normal | — | — |
| 61 | 37 | 2580 g (−1.0 SD) | 43 cm (−2.4 SD) | 34 cm (0.1 SD) | 24 y | Short stature | Thin | Normal | Mild | Normal | Mild | − | — | — | Normal | — | Autism |
| 62 | 27 | 730 g (−2.7 SD) | 30 cm (−3.3 SD) | n.r. | n.r. | n.r. | n.r. | n.r. | n.r. | n.r. | n.r. | n.r. | n.r. | n.r. | n.r. | n.r. | n.r. |
| 64 | n.r. | 3500 g | 55 cm | 36 cm | 25 y | Normal | Thin | Normal | Mild | Hyperton | Mild | − | — | — | n.p. | — | Psychosis |
| 65 | 40 | 3220 g (−0.7 SD) | 50 cm (−1.5 SD) | n.r. | 9 y 7 m | Short stature | Normal | Normal | Mild-moderate | Hypoton | Mild-moderate | + | n.r. | n.r. | n.p. | n.r. | n.p. |
| 66 | n.r. | 3500 g | n.r. | n.r. | 44 y | Normal | Normal | Normal | Mild | Normal | — | + | — | — | Normal | Lipoma, fibroadenoma | Ovarial cyst |
| 67 | 40 | 2420 g (−3.8 SD) | 48 cm (−2.5 SD) | 33 cm (−2.9 SD) | 14 y 2 m | Normal | Normal | Macrocephaly | Mild-moderate | Hypoton | Mild-moderate | − | — | Crowded toes | Normal | — | — |
| 68 | 40 | 3530 g (0.3 SD) | 50 cm (−1.5 SD) | 36.5 cm (1.5 SD) | 18 y | Short stature | Normal | Normal | Mild | hypoton | Mild-moderate | + | — | Syndactyly 2–4 on feet, Short toes | n.p. | — | Constipation, deafness |
| 70 | 37 | 3840 g (2.5 SD) | 55 cm (1.6 SD) | 36 cm (1.8 SD) | 26y | Normal | Normal | Normal | — | Normal | — | + | — | — | Normal | Lipoma | Macroglossia |
| 71 | 38 | 2100 g (−2.6 SD) | 47 cm (−1.3 SD) | 30 cm (−2.7 SD) | 21y | Short stature | Normal | n.r. | Mild-moderate | Hypoton | Mild-moderate | + | ASD | n.r. | n.p. | — | Constipation, feeding difficulties, spine anomaly, dubble ureters, died at age 21 years |
| 72 | 38 | 2240 g (−2.3 SD) | 44 cm (−2.3 SD) | n.r. | 7 y 2 m | Short stature | Normal | Microcephaly | Moderate | Hypoton | Moderate-severe | + | — | Crowded toes | n.p. | — | Constipation, feeding difficulties, hip dysplasia |
| 73 | 40 | n.r. | n.r. | n.r. | 47 y | Tall stature | Normal | Normal | — | Normal | — | + | — | Flat-arched feet | n.p. | — | Depression, fibromyalgia |
| 76 | 38 | 3230 g (−0.3 SD) | 50 cm (−1.0 SD) | 37 cm (1.7 SD) | 6 m | Short stature | Thin | Microcephaly | Mild | Hypoton | Too young | + | VSD, tricuspid aortic valve | Crowded toes | n.p. | — | Feeding difficulties, preauricular tags, hypospadia glandis |
| 77 | 39 | 2700 g (−1.4 SD) | 48 cm (−1.3 SD) | 35.5 cm (0.9 SD) | 17 y | Short stature | Thin | Microcephaly | Mild-moderate | Hypoton | Mild-moderate | + | — | Low set thumbs, syndactyly 2–4 on feet | n.p. | — | Constipation, feeding difficulties |
| 81 | 33 | 1980 g (−0.1 SD) | 40 cm (−1.6 SD) | 34 cm (2.5 SD) | 4 y 2 m | Short stature | Normal | Microcephaly | Mild-moderate | Hypoton | Mild-moderate | + | ASD | Crowded toes, low set thumb | Normal | — | Feeding difficulties, ureteric stenosis, hip dysplasia, two fused milk teeth |
| 82 | n.r. | 3650 g | 52 cm | n.r. | 18y | Normal | Normal | Normal | Mild | Normal | — | + | — | — | Normal | — | Swallowing difficulties |
Abbreviations: n.p., not performed; n.r., not reported.