Summary
A 10-year-old girl with partial deletion of the short arm of chromosome 9 is reported; karyotype: 46,XX,del(9)(p22). This syndrome results in a distinctive craniofacial dysmorphism with trigonocephaly and contrasting midfacial hypoplasia. Partial monosomy 9p was the result of a paternal de novo germinal deletion in this case.
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Deroover, J., Fryns, J.P., Parloir, C. et al. Partial monosomy of the short arm of chromosome 9. Hum Genet 44, 195–200 (1978). https://doi.org/10.1007/BF00295414
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DOI: https://doi.org/10.1007/BF00295414