Partial trisomy 9q: A new syndrome
- 1 January 1975
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 29 (3), 233-241
- https://doi.org/10.1007/bf00297629
Abstract
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.Keywords
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