BACKGROUND: Mosaic trisomy 18 has a wide phenotypic spectrum ranging from near normal to early death. We report two cases that add to our knowledge of the disease. METHODS: Patient 1 was a girl with a tracheoesophageal fistula, horse-shoe kidneys and a ventricular septal defect. Karyotyping of her lymphocytes showed complete trisomy 18. Due to her milder phenotypes, skin fibroblasts were karyotyped. Patient 2 was a boy with biventricular hypertrophic cardiomyopathy, patent ductus arteriosus, ventricular and atrial septal defects and significant feeding problems. RESULTS: Karyotyping of the skin and lymphocytes in patients 1 and 2 respectively revealed trisomy 18 mosaicism. Both children had only mild learning problems and were generally healthy with satisfactory growth. Patient 1 illustrates the possibility of significant discrepancy between the levels of trisomic cells in skin fibroblasts and lymphocytes leading to misdiagnosis. This finding has significant implications in medical management and counselling. Hypertrophic cardiomyopathy in patient 2 is recognized as a novel finding for this condition. CONCLUSION: There is the possibility of good outcome for patients with mosaic trisomy 18, even in the presence of multiple congenital anomalies.
BACKGROUND: Mosaic trisomy 18 has a wide phenotypic spectrum ranging from near normal to early death. We report two cases that add to our knowledge of the disease. METHODS:Patient 1 was a girl with a tracheoesophageal fistula, horse-shoe kidneys and a ventricular septal defect. Karyotyping of her lymphocytes showed complete trisomy 18. Due to her milder phenotypes, skin fibroblasts were karyotyped. Patient 2 was a boy with biventricular hypertrophic cardiomyopathy, patent ductus arteriosus, ventricular and atrial septal defects and significant feeding problems. RESULTS: Karyotyping of the skin and lymphocytes in patients 1 and 2 respectively revealed trisomy 18 mosaicism. Both children had only mild learning problems and were generally healthy with satisfactory growth. Patient 1 illustrates the possibility of significant discrepancy between the levels of trisomic cells in skin fibroblasts and lymphocytes leading to misdiagnosis. This finding has significant implications in medical management and counselling. Hypertrophic cardiomyopathy in patient 2 is recognized as a novel finding for this condition. CONCLUSION: There is the possibility of good outcome for patients with mosaic trisomy 18, even in the presence of multiple congenital anomalies.
Authors: Giuseppe Limongelli; Giuseppe Pacileo; Daniela Melis; Paolo Calabro'; Maria Cristina Digilio; Anna Sarkozy; Valeria Maddaloni; Giovanni Capozzi; Gianfranco Sebastio; Generoso Andria; Raffaele Calabro' Journal: Am J Med Genet A Date: 2008-02-01 Impact factor: 2.802