| Case: | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | |
| Sex | M | M | F | M | F | M | M | F | F | M | F | M | M | 5F/8M |
| Facial appearance | ||||||||||||||
| Greek warrior helmet facies | − | + | − | + | + | + | − | + | + | + | + | + | + | 10/13 |
| Hypertelorism | − | + | + | NI | NI | − | + | + | + | + | + | − | + | 8/11 |
| Prominent glabella | − | + | − | + | NI | − | + | + | NI | + | + | − | + | 7/11 |
| High forehead | − | + | + | NI | NI | + | + | + | NI | + | + | + | + | 9/10 |
| Epicanthus | NI | NI | − | − | NI | − | − | + | NI | − | − | + | − | 2/9 |
| Broad nose | − | + | + | NI | NI | − | + | + | + | + | + | − | − | 7/11 |
| Beaked nose | − | + | + | NI | NI | − | − | − | NI | + | + | − | + | 5/10 |
| Short philtrum | − | + | + | NI | + | − | + | + | NI | + | − | + | + | 8/11 |
| Oligodontia | NI | − | − | NI | NI | + | + | + | NI | NI | + | NI | + | 5/7 |
| Micrognathia | − | + | − | + | + | − | + | − | NI | + | − | + | + | 7/12 |
| Downturned shape of the mouth | − | + | − | + | NI | − | + | + | NI | − | + mild | + | − | 6/11 |
| Cleft lip/palate | −/− | −/− | −/− | −/− | NI | −/− | −/− | −/− | NI | −/− | −/+ | −/− | −/− | 1/11 |
| Colobomata of iris | − | − | − | − | − | − | − | − | NI | − | − | − | − | 0/12 |
| Narrow lacrimal ducts | NI | − | − | NI | NI | − | NI | − | NI | − | NI | NI | − | 0/6 |
| Strabism | − | + | − | − | − | − | − | + | NI | − | − | + | − | 3/12 |
| Dysplastic ears | − | + | + | + | + | + | + | + | NI | − | + | + | + | 10/12 |
| Preauricular tag/pit | − | − | − | − | − | − | − | − | NI | − | − | − | − | 0/12 |
| Birth | ||||||||||||||
| Gestational weeks at birth | 40 | 36 | NI | 39 | 37 | 38 | 32 | 37 | 40 | 42 | 42 | 34 | 40 | 38* |
| Weight (g) | 2080(<P3) | 1570(<P3) | 2640 | 2270(<P3) | 2050(P3–P10) | 2330(P3–P10) | 1800(P50–P75) | 2460(P25) | 2010(<P3) | 3250(P50) | 1900(P3–P10) | 2650(P75–P90) | 1900 (<P3) | 2224* |
| Length (cm) | 47(P10–P25) | NI | NI | 47.5(P25) | 44(P10–P25) | 44(<P10) | 42(P50) | 46(P25) | 44(<P10) | 50(P50–P75) | 45(<P10) | 49(P90) | NI | 46* |
| IUGR | + | + | + | + | + | + | + | + | + | − | + | − | + | 11/13 |
| OFC (cm) | NI | NI | NI | 33(P25–P50) | 29 (<P10) | 0 y1 m: 34 cm(<P3) | 30(P75–P90) | 32(P25) | 31(<P10) | 36, 2(>P90) | 30(<P10) | NI | NI | 31* |
| Microcephaly at birth | NI | NI | NI | − | + | + | − | − | + | − | + | NI | NI | 4/8 |
| Neonatal feeding difficulties | NI | NI | NI | NI | NI | NI | + | NI | NI | NI | NI | NI | + | 2/2 |
| Postnatal examination | ||||||||||||||
| Age at examination (year, month) | 11, 8 | 2, 4 | 23 | 12 | 16 | 13 | 13 | 3, 6 | 12 | 13, 6 | 14 | 29 | 5, 6 | |
| Length (cm)/short stature (+/−) | + | 87(P10–P25) | NI | 151(P50–P75) | + | 172(>P97) | 129(<P3) | +(−3SD) | 128(<P3) | 155(P25–P50) | 149(<P3) | 153(<P3) | 93(<P3) | |
| Weight (kg)/low weight (+/−) | + | 9, 2(<P3) | − | 31(P10–P25) | + | 41, 3(P25–P50) | 21(<P3) | −2SD | 23(<P3) | 32, 1(P3–P10) | 36, 7(<P3) | − | 11, 5(<P3) | |
| OFC (cm)/microcephaly (+/−) | + | 46.3(<P3) | + | NI | + | 50(<P3) | 48, 5(<P3) | −2SD | 49(<P3) | 53.4(P25) | 11 y: 47.3(<P3) | 52(<P3) | 44.8(<P3) | |
| Mental retardation | Moderate | Severe | Severe | Moderate | + | Mild/ moderate | Moderate | Severe | Severe | Mild/ moderate | Moderate/ severe | Severe | Moderate | |
| Sitting without support (year, month) | + | − | NI | 0, 1 | NI | 1, 2 | NI | 5, 0 | + | 0, 9 | NI | 3 | + | 8/9 |
| Walking without support (year/month) | 1, 6 | − | NI | 2, 1 | NI | 1, 6 | 2, 6 | − | NI | 1, 3 | NI | 6 | 1, 2 | 7/9 |
| Speech (year, month) | + | − | − | 5, 5 | NI | 4 | + | − | − | + | 4 | − | + | 7/12 |
| Hypotonia | − | − | + | + | + | + | + | + | NI | + | NI | − | − | 7/11 |
| Seizures | + | + | + | + | + | − | + | + | + | − | − | − | − | 8/13 |
| Deafness | − | − | − | − | NI | − | − | − | + | − | − | − | − | 1/12 |
| Congenital heart defects | − | + Small VSD | − | − | − | − | NI | − | NI | − | + Pst | − | − | 2/11 |
| Clubbing of fingers/toes | − | − | − | − | NI | − | − | − | NI | NI | NI | − | − | 0/9 |
| Scoliosis/hyperk | − | − | + | NI | − | + | + | − | NI | + | + | − | − | 5/11 |
| Club feet | − | − | + | − | NI | − | − | − | NI | NI | NI | − | − | 1/9 |
| Renal anomalies | − | Left sided kidney duplication | − | − | NI | NI | Vesico-urethral reflux | − | NI | NI | NI | NI | − | 2/7 |
| Genital anomalies | − | Hypospadias | − | Hypospadias | NI | Hypospadias | Hypospadias | − | NI | NI | Clitoromegaly | Hypospadias | Hypospadias | 7/10 |
| Sacral dimple | + | + | + | − | + | + | − | NI | NI | + | + | + | + | 9/11 |
| Extra | − | Hip dysplasia, nystagmus | − | Scoliosis | − | − | Kyphosis | − | Aphasia hyperactive | Left inguinal hernia | Left diaphragmatic hernia | − | − | |
| Delineation of the deletion | ||||||||||||||
| Deletion (start–end in Mb) | 1.4 | 1.9 | 2.0 | 2.2 | 2.3 | 1.1–2.5 | 2.7 | 2.7 | 2.7 | 1.8–3.6 | 3.7 | 4.8 | 5.3 | |
| Diagnosis by means of | FISH Oncor WHS probe | FISH Cytocell WHS probe | FISH Vysis WHS probe | FISH Vysis WHS probe | FISH Vysis WHS probe | FISH Vysis WHS probe | FISH Vysis WHS probe | FISH subtel. Probe Vysis | FISH Vysis WHS probe | FISH Vysis WHS probe | FISH Vysis WHS probe | FISH Vysis WHS probe | FISH Vysis WHS probe | |
| Subtelomeric screening by | 1 Mb array | 1 Mb array | 1 Mb array | 1 Mb array | FISH subtel | FISH subtel | 1 Mb array | FISH subtel | 1 Mb array | FISH subtel | FISH subtel | 1 Mb array | 1 Mb array | |
| Last normal clone (interstitial) (Mb) | RP11-20I20(1.1–1.3) | RP11-1197E19(1.8–1.9) | ||||||||||||
| First deleted clone (interstitial) (Mb) | RP11-386I15(12.–1.4) | RP11-262P20(1.8–2.1) | ||||||||||||
| Last deleted clone (Mb) | RP11-386I15(1.3–1.4) | RP11-21I14(1.9–2.1) | RP11-318G6(2.0–2.2) | RP11-440D10(2.2–2.4) | RP11-478C1(2.1–2.3) | RP11-478A6(2.4–2.6)? | RP11-444J4(2.6–2.7) | RP11-444J4(2.6–2.7) | RP11-444J4(2.6–2.7) | RP11-357G3(3.2–3.4) | RP3-513G18(3.6–3.7) | RP11-359G4(4.7–4.9) | CTD-2265H21(5.3–5.5) | |
| First normal clone (Mb) | RP11-1398P2(1.5–1.6) | RP11-318G6(2.0–2.2) | RP11-478C1(2.1–2.3) | RP11-678M13(2.3–2.5) | RP11-503N18(2.3–2.5) | RP3-474M20(2.6–2.7)? | RP11-372F2(2.9–3.1) | RP11-372F2(2.9–3.1) | RP11-372F2(2.9–3.1) | RP11-529E10(3.4–3.6) | RP11-489M13(4.0–4.2) | RP11-326I19(4.8–5.0) | RP11-653L17(5.5–5.7) | |
| Chr. 4 band | 4p16.3 | 4p16.3 | 4p16.3 | 4p16.3 | 4p16.3 | 4p16.3p16.3 | 4p16.3 | 4p16.3 | 4p16.3 | 4p16.3p16.3 | 4p16.3 | 4p16.2 | 4p16.2 | |
ASD: atrial septal defect; F, female; FISH, fluorescence in situ hybridisation; IUGR, intrauterine growth retardation; M, male; NI, not investigated; OFC, occipitofrontal circumference; Pst, pulmonic stenosis; VSD, ventricular septal defect.
*Average.