title: Genome wide analysis in a discordant monozygotic twin with caudal appendage and multiple congenital anomalies.
abstract: Caudal appendage is a rare dysmorphic feature of which etiologic mechanisms are not well understood. Here we report monozygotic (MZ) twin brothers who are discordant for the caudal appendage and multiple congenital anomalies. Twins were the product of a 33 weeks of gestation, monochorionic-diamniotic pregnancy. On admission the proband had micrognathia, beaked nose, hypospadias, caudal appendage and juxtaductal aorta coarctation. At birth, he was small for gestational age and he had transient hypothyroidism which was detected in the newborn period. Karyotype analysis showed 46,XY. Monozygosity was shown by 15 microsatellite markers plus amelogenin (AmpFlSTR Identifiler PCR Amplification Kit, Applied Biosystems). Genome-wide copy number analysis of the twins by DNA-DNA hybridization of whole genomic DNA (NimbleGen Human CGH 385K WG-T v2.0 array) showed a significant difference at two neighboring probes with Log2 ratio: 0.72088 which are located on chromosome 3p12.3. Further analysis by high resolution of chromosome 3 array (Roche NimbleGen Human HG18 CHR3 FT Median Probe Spacing 475 bp) and quantitative PCR analysis did not confirm the deletion.
authors.affiliation: Ege University, Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey. ozgur.cogulu@ege.edu.tr
authors.forename: O
authors.initials: O
authors.lastname: Cogulu
authors.forename: E
authors.initials: E
authors.lastname: Pariltay
authors.forename: O A
authors.initials: OA
authors.lastname: Koroglu
authors.forename: A
authors.initials: A
authors.lastname: Aykut
authors.forename: R
authors.initials: R
authors.lastname: Ozyurek
authors.forename: E
authors.initials: E
authors.lastname: Levent
authors.forename: N
authors.initials: N
authors.lastname: Kultursay
authors.forename: F
authors.initials: F
authors.lastname: Ozkinay
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000273:Adipose Tissue / Q000473:pathology / Q000601:surgery; D002675:Child, Preschool; D003238:Connective Tissue / Q000473:pathology / Q000601:surgery; D004200:Diseases in Twins / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging; D055106:Genome-Wide Association Study / Q000379:methods*; D006801:Humans; D051457:Hyaline Cartilage / Q000473:pathology / Q000601:surgery; D007621:Karyotyping / Q000379:methods; D008297:Male; D011247:Pregnancy; D012445:Sacrococcygeal Region / Q000002:abnormalities* / Q000473:pathology / Q000601:surgery; D014430:Twins, Monozygotic / Q000235:genetics; D016216:Ultrasonography, Prenatal / Q000379:methods