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  • Title: Deletion of the short arm of chromosome 9. A clinically recognisable entity.
    Author: Fryns JP, Pedersen JC, Duyck H, Fabry G, Van den Berghe H.
    Journal: Eur J Pediatr; 1980 Sep; 134(3):201-4. PubMed ID: 7428770.
    Abstract:
    A partial deletion of the short arm of chromosome 9 is reported in a female newborn and a 12.5 year-old male. The features expressed by both patients, and especially the peculiar type of the craniofacial dysmorphism, confirm the existence of a typical clinical syndrome associated with this partial autosomal monosomy.
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