title: Mosaic monosomy 14: clinical features and recognizable facies.
abstract: A 1-year-old child with clinical features of monosomy 14 is reported. She has dysmorphic facial features including ocular colobomata, dolichocephaly and microcephaly, retinal pigmentation, severe seizures, fair curly hair and tapering fingers. There was severe mental retardation. This is the first reported case of severe mosaic monosomy 14, with up to 30% mosaicism. A recognizable facial gestalt is present in children with 14q deletions or partial monosomy 14, as well as susceptibility to infection, feeding difficulties, seizures and retinal pigmentation.
authors.affiliation: Department of Medical Genetics, Belfast City Hospital Trust, Belfast, UK Department of Obstetrics and Gynaecology, University College Galway, Galway, Ireland.
authors.forename: V
authors.initials: V
authors.lastname: McConnell
authors.forename: R
authors.initials: R
authors.lastname: Derham
authors.forename: D
authors.initials: D
authors.lastname: McManus
authors.forename: P J
authors.initials: PJ
authors.lastname: Morrison
mesh_terms: D001921:Brain / Q000002:abnormalities; D001996:Bronchopneumonia / Q000150:complications; D002675:Child, Preschool; D002871:Chromosome Banding; D002883:Chromosomes, Human, Pair 14; D003103:Coloboma / Q000175:diagnosis; D003582:Cytogenetics; D019066:Facies; D017809:Fatal Outcome; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008831:Microcephaly / Q000175:diagnosis; D009030:Mosaicism; D010641:Phenotype; D012160:Retina / Q000002:abnormalities; D012303:Ring Chromosomes; D012640:Seizures / Q000175:diagnosis