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  • Title: A case of partial 9p monosomy with some unusual clinical features.
    Author: Rutten FJ, Hustinx TW, Dunk-Tillemans AA, Scheres JM, Tjon YS.
    Journal: Ann Genet; 1978 Mar; 21(1):51-5. PubMed ID: 308344.
    Abstract:
    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.
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