Trisomy 22. Two new cases and delineation of the phenotype.
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.
D000015:Abnormalities, Multiple; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002904:Chromosomes, Human, 21-22 and Y; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D010641:Phenotype; D011796:Quinacrine; D013194:Staining and Labeling; D014314:Trisomy
D011796:Quinacrine