title: Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma.
abstract: The association of moderate mental retardation, behavioural problems, macrocephaly, dysmorphic features with iris coloboma, and supernumerary nipples was observed in two brothers with a terminal deletion 4q33-->4qter and a terminal duplication 7q34-->7qter. The aberration was detected by subtelomere FISH screening and (probably) resulted from a cryptic familial translocation (4;7)(q33;q34).
authors.affiliation: Department of Clinical Genetics, University Hospital Maastricht, PO Box 1475, 6201 BL Maastricht, The Netherlands. ute.moog@gen.unimaas.nl
authors.forename: Ute
authors.initials: U
authors.lastname: Moog
authors.forename: John J M
authors.initials: JJ
authors.lastname: Engelen
authors.forename: Henny M J
authors.initials: HM
authors.lastname: van Schrojenstein Lantman-de Valk
authors.forename: Sandra D
authors.initials: SD
authors.lastname: Driessen
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002894:Chromosomes, Human, Pair 4; D002897:Chromosomes, Human, Pair 7; D003103:Coloboma / Q000235:genetics; D017353:Gene Deletion; D006257:Head / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007498:Iris / Q000002:abnormalities; D008297:Male; D008875:Middle Aged; D035781:Siblings; D014178:Translocation, Genetic