title: Possible isochromosome 22 leading to trisomy 22.
abstract: We describe the first case of trisomy 22 resulting from a monocentric, possible isochromosome 22. The female infant had multiple anomalies including an abnormal face, ambiguous genitalia, and both ventricular and atrial septal defects. Survival was short.
authors.affiliation: Department of Human Genetics, The South African Institute for Medical Research and The University of the Witwatersrand, Johannesburg, South Africa.
authors.forename: B F
authors.initials: BF
authors.lastname: Manasse
authors.forename: W M
authors.initials: WM
authors.lastname: Pfaffenzeller
authors.forename: N
authors.initials: N
authors.lastname: Gurtunca
authors.forename: T J
authors.initials: TJ
authors.lastname: de Ravel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005145:Face / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006130:Growth Disorders / Q000235:genetics; D006344:Heart Septal Defects, Atrial / Q000235:genetics*; D006345:Heart Septal Defects, Ventricular / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D018404:Isochromosomes / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D010641:Phenotype; D011247:Pregnancy; D011248:Pregnancy Complications; D014314:Trisomy / Q000235:genetics*; D014463:Ultrasonography