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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.
  1. AF amniotic fluid, IUGR intrauterine growth retardation, PNGR post-natal growth retardation, SGA small for gestational age, VSD ventricular septal defect, BAD bone age delayed
  2. athe percentage in table stand for the mosaicism level