title: Deletion of the long arm of chromosome 6: two new patients and literature review.
abstract: Two children with a partial monosomy 6q are reported: a girl with an interstitial deletion [46,XX,del(6)(q16.2q23.1)], and a boy with a terminal deletion [46,XY,del(6)(q25.1)]. Both children presented with developmental delay, facial dysmorphism and a cardiac defect. The patients have been studied using G banding and cosmid probes specific for the long arm of chromosome 6. Clinical data are compared with patients reported in the literature.
authors.affiliation: Department of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands.
authors.forename: L J
authors.initials: LJ
authors.lastname: Evers
authors.forename: C T
authors.initials: CT
authors.lastname: Schrander-Stumpel
authors.forename: J J
authors.initials: JJ
authors.lastname: Engelen
authors.forename: T M
authors.initials: TM
authors.lastname: Hoorntje
authors.forename: C F
authors.initials: CF
authors.lastname: Pulles-Heintzberger
authors.forename: J J
authors.initials: JJ
authors.lastname: Schrander
authors.forename: J C
authors.initials: JC
authors.lastname: Albrechts
authors.forename: J
authors.initials: J
authors.lastname: Peters
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006801:Humans; D008297:Male