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  • Title: Trisomy 22. Two new cases and delineation of the phenotype.
    Author: Penchaszadeh VB, Coco R.
    Journal: J Med Genet; 1975 Jun; 12(2):193-9. PubMed ID: 49427.
    Abstract:
    Two unrelated children, not affected with Down's syndrome, with strikingly similar phenotypes and an extra G-like chromosome are presented. Quinacrine and trypsin-Giemsa banding identified the extra chromosome as No. 22. The phenotype of these patients and the review of 15 additional similar cases from the literature permit a definition of the cardinal features of trisomy 22; mental and growth retardation, microcephaly and craniofacial asymmetry, strabismus, beaked and prominent nose, long philtrum, cleft palate, micrognathia, large low set ears with preauricular tags and/or pits, long slender fingers, congenital heart disease, inguinal hernia, and hip dislocation.
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