Clinical features in patients with complete trisomy 5p and tetrasomy 5p
| Complete trisomy 5p (p11→pter) (n=81-150) | Mosaic tetrasomy (5)(p11→pter) | Tetrasomy (5)(p14→pter) | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Stanley et al16 | Sijmons et al17 | Lorda-Sanchez et al18 | Harrison et al15 | Present case | |||||
| Maternal age | 28–47 (mean 29.5) | 29 | 40 | 31 | 28 | 21 | |||
| Paternal age | 26–35 (mean 29.8) | 29 | 40 | 30 | 25 | ||||
| Gestational age (weeks) | At term 6 | 40 | 34 | 39 | 41 | 38 | |||
| Sex | 4F / 4M | F | M | F | F | F | |||
| Birth weight (g) | 1275–3000 | 2670 | 2550 | 3040 | 2900 | 1890 | |||
| Birth length (cm) | 44–55 | 46 | 52.5 | 43 | |||||
| OFC at birth (cm) | 32.5–39 | 36.5 | 32.5 | 31.5 | |||||
| Macro/microcephaly | 8/8 macro | Macro | Macro | Micro | Micro | ||||
| Ventriculomegaly | 5/8 | + | + | + | + | ||||
| Supraorbital ridges | 1/8 depressed | Depressed | Depressed | Depressed | |||||
| Hypertelorism | 5/8 | + | − | ||||||
| Epicanthus | 5/8 | + | + | ||||||
| Upward slanting palpebral fissures | 5/8 | + | + | + | |||||
| Eye abnormalities | 1/8 | Coloboma | − | ||||||
| Depressed nasal bridge/short nose | 7/8 | + | + | + | |||||
| Midface hypoplasia | 4/8 | + | + | + | |||||
| Philtrum | 5/8 long | Long | Long | Short | Short | ||||
| Macroglossia | 4/8 | − | |||||||
| Palate | 2/8 high | High | Cleft | ||||||
| Microretrognathia | 6/8 | + | + | + | + | ||||
| Dysplastic ears | 8/8 | + | + | + | + | ||||
| Preauricular pits | 0/8 | + | + | − | |||||
| Short neck/redundant skin | 7/8 | + | + | − | |||||
| Clinodactyly | 1/8 | + | + | + | + | ||||
| Proximally implanted toes | 1/8 | + | + | + | |||||
| Club feet | 5/8 | + | − | ||||||
| Congenital heart defect | 6/8 | + | + | + | |||||
| High diaphragm | 1/8 | + | + (right side) | ||||||
| Respiratory difficulties | 6/8 | + | + | + | |||||
| Recurrent infections | 2/8 | + | + | ||||||
| Failure to thrive | 4/8 | + | + | + | |||||
| Postnatal growth failure | 3/8 | + | |||||||
| Muscle tone | 8/8 hypo | Hypo | Hypo | Hypo | Hyper | Hypo <-> hyper (alternating) | |||
| Flexions contractures | 0/8 | + | + | ||||||
| Psychomotor retardation | 5/8 | + | + | + | + | ||||
| Seizures/abnormal EEG | 4/8 | + | + | + | + | + | |||
| Early death | 4/8 | + | + | ||||||
| Others | Genital anomalies, larynx anomaly, bronchomalacia, generalised hyperpigmentation | Gut malrotation, dysplastic kidneys | Thoracospinal scoliosis | ||||||
↵1-150 Only cases with complete trisomy 5p without involving another chromosome aberration were considered, six cases reviewed by Lorda-Sanchez et al,19 one by Reichenbach et al,21 and one by Velagaleti et al.22