title: Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism.
abstract: We report on a girl with trisomy 12 mosaicism diagnosed postnatally. She has been followed from 4 months of age for developmental delay, unilateral sensorineural hearing loss, intestinal malrotation, hemi-hyperplasia, pigmentary dysplasia, retinopathy, and a vascular ring. To our knowledge, there have been no reports of complete trisomy 12 in the literature. However there have been a few reports describing the phenotype of individuals with trisomy 12 mosaicism. This case report is a description of the eighth liveborn individual diagnosed postnatally with this condition.
authors.affiliation: Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.
authors.forename: Walla
authors.initials: W
authors.lastname: Al-Hertani
authors.forename: Jean
authors.initials: J
authors.lastname: McGowan-Jordan
authors.forename: Judith E
authors.initials: JE
authors.lastname: Allanson
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D002881:Chromosomes, Human, Pair 12; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D009030:Mosaicism; D010859:Pigmentation Disorders / Q000175:diagnosis / Q000235:genetics; D014314:Trisomy / Q000175:diagnosis*