title: Distinctive neurological phenotype associated with partial trisomy of chromosome 16.
abstract: We present a case of a live born female infant who presented in early life with a movement disorder, lack of developmental progress and neutropenia. Extensive neuro-metabolic investigation was non-diagnostic. Chromosome analysis of cultured lymphocyte cells showed an abnormal chromosome 16 with additional material noted in the proximal long arm. Additional fluorescence in situ hybridisation studies identified this additional material to represent a duplication of the long arm of chromosome 16 between 16q11.2 and 16q21. There was progressive decline and death by 10 months. Dystonia cortical blindness and neutropenia have not been a reported feature of trisomy 16 to date.
authors.affiliation: Paediatric Neurology, Royal Manchester Children's Hospital, Manchester M13 9WL, UK. garymccullagh@hotmail.com
authors.forename: B G
authors.initials: BG
authors.lastname: McCullagh
authors.forename: B
authors.initials: B
authors.lastname: Kerr
authors.forename: S
authors.initials: S
authors.lastname: Trueman
authors.forename: P I
authors.initials: PI
authors.lastname: Tomlin
authors.forename: M
authors.initials: M
authors.lastname: Thomas
authors.forename: R
authors.initials: R
authors.lastname: Wynn
authors.forename: C G E L
authors.initials: CG
authors.lastname: de Goede
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D019575:Blindness, Cortical / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16; D004421:Dystonia / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D009030:Mosaicism; D009503:Neutropenia / Q000235:genetics*; D010641:Phenotype; D014314:Trisomy / Q000473:pathology* / Q000503:physiopathology*