Cytogenetic and clinical findings of patients with 13q deletions
| Patients | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Deleted segment | q13.3-qter | q14.11–21.31 | q14.3–32.1 | q21.1–31.3 | q21.33–31.2 | q22.1/.2–31.3 | q22.2-qter | q22.3–33.2 | q31.1–33.1 | q31.1-qter | q31.1-qter | q32.2-qter | q33.3-qter | q34-qter |
| Sex | F | F | M | M | F | M | F | F | M | F | F | F | F | F |
| Age at karyotyping | 16 w | 11 y | At birth | 21 w | 28 y | At birth | 17 w | 1 y | At birth | At birth | 4 y | 16 y | 5 y | At birth |
| DWM, Dandy–Walker malformation; F, female; M, male; m, months; NK, not known; NR, normal range; OFC, occipitofrontal head circumference; p, percentile; w, weeks; y, years; —, undetectable. | ||||||||||||||
| The ages of developmental milestones are given when available: if a milestone was reached at an unknown age, a plus sign is used; a minus sign indicates that the milestone was not achieved. | ||||||||||||||
| In the case of the other features, a plus or minus sign indicates presence or absence. For hands and feet, plus signs denote minor anomalies, such as single palmar crease and syndactyly of the second and third toes. | ||||||||||||||
| Measures at birth at age (w): | — | NK | 38 | 21 | 38 | NK | — | 40 | NK | 36 | 37 | 40 | 41 | 40 |
| Length (p) | NK | <5 | NK | NK | NK | NK | <3 | <3 | 50 | <3 | NK | |||
| Weight (p) | <3 | NK | 10 | NK | <25 | NK | <3 | <3 | 25 | <3 | <3 | |||
| OFC (p) | NK | >97 | NK | NK | NK | NK | <3 | <3 | 3 | <3 | NK | |||
| Apgar index | — | NK | NK | — | NK | NK | — | NK | NK | 4 | 10, 10 | 2, 3, 6 | 7, 8 | NK |
| Postnatal measures at age | — | 11 y | 4 m | — | 28 y | 4 y | — | 15 y | — | 2 y and 6 m | 5 y | 16 y | 5 y | 22 y |
| Height (p) | NK | <3 | <3 | NK | NK | <3 | <3 | 3 | >97 | <3 | ||||
| Weight (p) | NK | <3 | <3 | NK | NK | <3 | 3 | 3 | >90 | <3 | ||||
| OFC (p) | >97 | <3 | <3 | NK | >10 | <3 | <3 | <3 | <3 | <3 | ||||
| Walked unassisted | — | 30 m | — | — | 3 y | NK | — | – | — | – | – | – | 14 m | 13 m |
| Age at first words | 18 m | 2 y | – | – | NK | – | – | + | 5–6 y | |||||
| Age at first phrases | 18 m | + | – | – | NK | – | – | + | NK | |||||
| Bladder/bowel control | NK | + | NK | – | NK | – | – | + | NR | |||||
| Mental retardation | — | Mild | — | — | Moderate | Severe | — | Severe | — | NK | Profound | Profound | Moderate | Moderate |
| Brain anomalies | ||||||||||||||
| Corpus callosum agenesis | – | – | – | – | – | NK | – | – | NK | + | – | + | – | – |
| DWM | – | – | – | – | – | NK | – | + | NK | – | + | + | – | – |
| Cerebellar hypoplasia | + | – | – | – | – | NK | – | – | NK | – | + | – | – | – |
| Cortical dysplasia | – | – | – | + | – | NK | – | – | NK | – | – | – | – | – |
| NTDs | ||||||||||||||
| Encephalocele | – | – | – | – | – | – | + | – | + | – | – | – | – | – |
| Spina bifida | – | – | – | – | – | – | + | – | – | – | – | – | – | – |
| Hypoplasia of optic nerve | — | + | – | – | – | NK | — | – | – | NK | + | – | – | – |
| Microphthalmos | + | – | – | – | – | – | — | – | – | + | + | + | – | – |
| Iris/choroid retina-coloboma | — | – | – | – | – | – | — | + | – | + | + | + | – | – |
| Blindness | — | – | – | — | – | – | — | – | – | + | + | + | – | – |
| Hypotonia | — | – | + | — | – | – | — | + | – | + | + | + | + | + |
| Hypertelorism | NK | – | + | – | + | + | NK | + | NK | + | + | + | + | + |
| Epicanthus | NK | + | – | – | – | – | NK | – | NK | + | + | – | + | – |
| Broad prominent nasal bridge | NK | + | + | – | + | – | NK | + | NK | – | + | + | + | – |
| Low-set ears | NK | – | – | – | + | + | NK | – | + | + | + | – | – | – |
| Malformed ears | NK | + | – | – | – | – | NK | – | – | – | + | – | – | – |
| High and narrow palate | NK | + | – | – | – | – | NK | + | NK | + | – | + | + | – |
| Micrognathia | NK | – | – | – | – | – | NK | – | NK | + | + | + | + | – |
| Congenital heart defects | – | – | + | – | – | + | — | – | – | + | + | – | + | – |
| Ambiguous genitalia | – | – | – | – | – | + | – | – | – | + | – | – | – | – |
| Hand anomalies | – | – | + | – | + | – | — | + | + | + | + | + | + | – |
| Foot anomalies | + | – | + | – | + | – | — | + | + | + | + | + | + | + |
| Skeletal abnormalities | + | + | – | – | – | – | – | – | NK | + | + | + | + | + |