title: Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies.
abstract: Partial trisomy of the region 12q24.1-->q24.2 is rare and usually associated with other rearrangements. We report on the clinical and cytogenetic findings in a girl with a pure de novo direct duplication dup(12)(q24.1-->q24.2). She had developmental and growth retardation, facial dysmorphism with upslanting palpebral fissures, wide downturned mouth, short neck, and Marcus Gunn phenomenon. She also had single transverse creases, hypoplasia of the corpus callosum, and cardiac malformations consisting of a bicuspid aortic valve, multiple ventricular septal defects, and kinking of the aorta. The size of the duplication was characterized by molecular cytogenetics and comparative genomic hybridization (CGH) to be 11.5 Mb in size and extended from the BAC probe RP11-256L11 loci (108.2 Mb) +/- 1 Mb to the BAC probe RP11-665J20 loci (119.7 Mb) +/- 1 Mb. No such pure 12q24 duplication was detected out of the 23 patients reported in the literature with duplications in 12q region. Comparison with these reported 12q trisomies suggests the duplication dup(12)(q24.1-->q24.2) is associated with a recognizable phenotype consisting of characteristic facial dysmorphism, growth retardation, and cardiac malformation.
authors.affiliation: Service de Génétique, CHU-Reims, UFR de médecine REIMS, IFR53, Reims, France. mdocofenzy@chu-reims.fr
authors.forename: Martine
authors.initials: M
authors.lastname: Doco-Fenzy
authors.forename: Pierre
authors.initials: P
authors.lastname: Mauran
authors.forename: Jean Marie
authors.initials: JM
authors.lastname: Lebrun
authors.forename: Sylvie
authors.initials: S
authors.lastname: Bock
authors.forename: Nathalie
authors.initials: N
authors.lastname: Bednarek
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Struski
authors.forename: Juliette
authors.initials: J
authors.lastname: Albuisson
authors.forename: Azarnouche
authors.initials: A
authors.lastname: Ardalan
authors.forename: Nathalie
authors.initials: N
authors.lastname: Collot
authors.forename: Anouck
authors.initials: A
authors.lastname: Schneider
authors.forename: Florence
authors.initials: F
authors.lastname: Dastot-Le Moal
authors.forename: Dominique
authors.initials: D
authors.lastname: Gaillard
authors.forename: Michel
authors.initials: M
authors.lastname: Goossens
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001763:Blepharoptosis / Q000473:pathology*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D003337:Corpus Callosum / Q000473:pathology; D005152:Facial Muscles / Q000294:innervation*; D005260:Female; D020440:Gene Duplication; D015894:Genome, Human; D006130:Growth Disorders / Q000473:pathology; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000473:pathology; D007621:Karyotyping; D009693:Nucleic Acid Hybridization / Q000379:methods; D009802:Oculomotor Nerve / Q000002:abnormalities; D014276:Trigeminal Nerve / Q000002:abnormalities