title: Siblings with chromosome mosaicism, microcephaly, and growth retardation: the phenotypic expression of a human mitotic mutant?
abstract: We report male and female siblings with extreme microcephaly and mental retardation, growth retardation, and multiple chromosome mosaicism. Mental retardation associated with chromosome mosaicism does not always carry a low recurrence risk.
authors.affiliation: Duncan Guthrie Institute of Medical Genetics, Yorkhill Hospitals, Glasgow, UK.
authors.forename: J L
authors.initials: JL
authors.lastname: Tolmie
authors.forename: E
authors.initials: E
authors.lastname: Boyd
authors.forename: P
authors.initials: P
authors.lastname: Batstone
authors.forename: M E
authors.initials: ME
authors.lastname: Ferguson-Smith
authors.forename: L
authors.initials: L
authors.lastname: al Roomi
authors.forename: J M
authors.initials: JM
authors.lastname: Connor
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002869:Chromosome Aberrations; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009030:Mosaicism; D009154:Mutation; D010641:Phenotype