A case of partial 9p monosomy with some unusual clinical features.
A patient is described with a karyotype 46,XX,del(9)(qter leads to p22:) and having the main clinical characteristics of pure monosomy for part of the short arm of chromosome No 9, among which craniosynostosis and trigonocephaly. She has also a few atypical features: a clearly advanced osseous maturation, marked congenital vertebral anomalies and unusual dermatoglyphics.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping