Petek et al. | Biesecker et al. | Schinzel | Feenstra et al. | Our Patient | Feenstra et al. | Feenstra et al. | Okamoto et al. | Peeters et al. | Failla et al. | |
---|---|---|---|---|---|---|---|---|---|---|
(patient 1) | (patient 2) | (patient 3) | (patient 1) | |||||||
Duplicated region | q13-qter | q13.2-qter | q13.2-qter | q13.2-qter | q13.2-qter | q13.3-qter | q13.3-qter | q13.3-qter | q13.3-qter | q13.3-qter |
Duplication cause | der(19)t(19p;22q)dn | der(6)t(6;22)mat | der(21)t(21p;22q) | der(22)t(22p;22q)dn | der(21)t(21p;22q)pat | der(21)t(21p;22q)dn | der(22)t(22p;22q)dn | der(22)t(22p;22q)dn | ||
Sex | M | F | F | F | F | M | M | F | F | F |
Psychomotor retardation | + | + | + | + | mild | moderate | mild | moderate | mild | Moderate Disorganized schizophrenia |
Stature (height) | −2.5 S.D. | 0 S.D. | Short stature | −4 S.D. | 0 S.D. | −3 S.D | −3 S.D | −3.2 SD | 0 SD | |
Hypotonia | + | + | − | − | − | + | − | + | ||
Head | ||||||||||
Microcephaly | + | + | + | + | + | + | + | + | + | + |
Brain abnormalities | + | − | − | − | − | − | − | − | ||
Sparse, fine hair | + | + | − | + | + | |||||
Prominent forehead | + | − | + | + | + | + | ||||
Hypertelorism | − | + | + | + | + | − | + | + | − | + |
Palpebral fissures slant up | + | + | − | − | − | |||||
Narrow palpebral fissures | + | + | − | + | − | |||||
Epicanthic folds | + | + | + | − | − | |||||
Wide nasal bridge | + | + | − | − | + | + | ||||
Low set ears | + | − | + | + | + | − | − | + | − | |
Dysplastic ears | − | − | − | − | − | + | − | |||
Hearing loss | + | − | − | − | − | − | − | − | ||
Long philtrum | − | + | − | − | ||||||
Prominent upper lip | + | − | + | + | − | |||||
Prominent lower lip | − | + | − | − | − | |||||
Cleft lip | + | − | − | − | ||||||
Cleft palate | + | + | + | − | − | − | − | − | ||
Thorax, abdomen and genitalia | ||||||||||
Renal malformations | + | + | − | − | − | − | − | |||
Genital malformation | + | − | − | − | − | − | − | |||
Limbs | ||||||||||
Dysplastic hip | + | + | − | − | ||||||
Slender fingers | − | |||||||||
Clinodactyly fifth finger | − | + | ||||||||
Club foot, varus | − | − | ||||||||
Survival | Alive, 9 years | Alive, 9 years | Alive, 8.5 years | Alive, 5 years | Alive, 15 years | Alive, 2 years | Alive, 40 years | Alive, 4 years | Alive, 6.8 years | Alive, 20 years |