Partial monosomy of the short arm of chromosome 9: a distinct clinical entity.
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.
D002648:Child; D002872:Chromosome Deletion; D002877:Chromosomes, Human / Q000648:ultrastructure; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D010641:Phenotype