Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation. |
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Authors: | C Stoll D Chognot A Halb J C Luckel |
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Affiliation: | Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France. |
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Abstract: | Two girls with mosaicism for an extra chromosome 9 are reported. Clinical findings included growth and mental retardation, facial dysmorphism, delayed ossification, single flexion crease, gastro-oesophageal reflux in one girl, and ventricular and atrial septal defects in the other patient. These findings are compared to the other previously reported cases of trisomy 9 mosaicism. |
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