Review
doi: 10.1002/ajmg.1320450412.
Duplication of 9q12-q33: a case report and implications for the dup(9q) syndrome
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- PMID: 8465850
- DOI: 10.1002/ajmg.1320450412
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Review
Duplication of 9q12-q33: a case report and implications for the dup(9q) syndrome
Am J Med Genet.
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Abstract
We report on a boy with a direct tandem duplication of 9(q12-q33) and dolichocephaly, beaked nose with prominent philtrum, deep-set eyes, receding small chin, failure to thrive, developmental delay, simian creases, long fingers, stiff joints, and hypoplastic scrotum. This patient is compared to the 5 other reported cases with pure partial dup(9q), and the "trisomy 9q syndrome" described by Turleau et al. [1975].
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