Table 2 Clinical features of mosaic UPD(7) mat cases
From: Mosaic UPD(7q)mat in a patient with silver Russell syndrome
Miozzo et al. | Bilimoria et al. | Elisabeth et al. | Reboul et al. | Tomoko et al. | Our patient | |
|---|---|---|---|---|---|---|
Mosaicism UPD type | Mixture of i7 andT7 | Mixture of i7 and T7 | Mixture of het 7 and T7 | Mosaic segmental UPD7(q21-qter) | Mixture of i7 and N7 | Mosaic UPD7(q11-qter) |
Evaluation analysis | Microsatellite Metaphase FISH karyotyping | Microsatellite, karyotyping | Microsatellite, FISH | microsatellite analysis | microsatellite karyotype methylation | SNP array microsatellite |
tissuses | Peripheral blood placental cotyledons | AF: ~ 27%a | AF: ~ 44% Intestine: 15% Skin: metaphases (5.5%) = nuclei (4%) | Peripheral blood | Peripheral blood: 92% Salivary:91% | Peripheral blood: ~ 80% |
Major Clinical findings | IUGR, low birth weight, PNGR, relative macrocephaly, triangular face, prominent forehead, asymmetry | SGA, low-set ears, prominent forehead, small chin, triangular face, micrognathia, reversed epicanthal folds, clinodactyly of fifth finger bilaterally | Prominent large forehead, low osterior-rotated ears, small and retruded chin, bilateral clinodactyly of fifth fingers, VSD, PNGR, relative macrocephaly, feeding difficulties, triangular-shaped face, BAD | Growth failure, SGA, low birth weight, not show any craniofacial dysmorphic features. | Low birth weight/length, VSD, hydronephrosis, Feeding difficulty, speech delay, short stature, relative macrocephaly, abnormal teeth, 5th finger clinodactyly | Short stature triangular face, moderate protruding forehead, relative macrocephaly, fifth toe buckling and irregularly teeth. |