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Trisomy 9 mosaicism in a girl with multiple malformations
L Diaz-Mares1, B Molina, A Carnevale
1Servicio de Genetica medica, Instituto Nacional de Pediatria, Mexico City, Mexico.
Abstract:
A one-year-old girl with a mosaicism for an extra chromosome 9 is reported. Clinical findings included severe growth and mental retardation, frequent respiratory infections, peculiar face, skeletal and craniofacial abnormalities, seizures, spasticity, cardiopulmonary, gastrointestinal and genitourinary alterations. These findings were compared to those of the 10 other previously reported cases of trisomy 9 mosaicism. This helps to define the most constant phenotypical characteristics and most frequent major malformations which occur in trisomy 9 mosaicism. It is noteworthy that the reported percentage of trisomic cells was different in lymphocytes and in fibroblasts in each case.