title: Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.
abstract: Molecular genetic investigation of a female infant with Beckwith-Wiedemann syndrome (BWS) showed loss of IGF2 imprinting but no evidence of uniparental disomy. In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (microcephaly, short stature, hypotonia). The association of a chromosome 18 deletion and BWS may be coincidental or may indicate the location of a trans activating regulator element for maintenance of IGF2 imprinting.
authors.affiliation: Human Genetics Unit, Western General Hospital, Edinburgh, UK.
authors.forename: C M
authors.initials: CM
authors.lastname: Brewer
authors.forename: W W
authors.initials: WW
authors.lastname: Lam
authors.forename: C
authors.initials: C
authors.lastname: Hayward
authors.forename: E
authors.initials: E
authors.lastname: Grace
authors.forename: E R
authors.initials: ER
authors.lastname: Maher
authors.forename: D R
authors.initials: DR
authors.lastname: FitzPatrick
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics* / Q000503:physiopathology; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D004431:Ear, External / Q000002:abnormalities; D005153:Facial Neoplasms / Q000235:genetics; D005260:Female; D018392:Genomic Imprinting; D018324:Hemangioma, Capillary / Q000235:genetics; D006554:Hernia, Umbilical / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007335:Insulin-Like Growth Factor II / Q000235:genetics* / Q000502:physiology; D007621:Karyotyping; D008260:Macroglossia / Q000235:genetics; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011248:Pregnancy Complications
chemical_list: D007335:Insulin-Like Growth Factor II