Summary
Two unrelated patients with a strikingly similar phenotype (low birth weight and poor thriving; mental retardation; dolichocephaly; beaked nose; deeply set eyes; prominent maxilla and receding small chin; long fingers with a peculiar clench) were partially trisomic for two different segments of 9q. The segment found to be trisomic in both patients is small and corresponds to the q31q32 region. This new syndrome is compared to observations of trisomy 9 reported in the literature.
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References
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This work was supported by the C.N.R.S.: ER 149 and RCP 84.
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Turleau, C., de Grouchy, J., Chavin-Colin, F. et al. Partial trisomy 9q: A new syndrome. Hum Genet 29, 233–241 (1975). https://doi.org/10.1007/BF00297629
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DOI: https://doi.org/10.1007/BF00297629