title: Array-CGH and clinical findings in a patient with a small supernumerary r(8) mosaicism.
abstract: Small supernumerary ring chromosomes (sSRC) represent a subset of small supernumerary marker chromosomes (sSMC) where r(8) is relatively common. The phenotype sSRC(8) ranges from almost normal to variable degrees of abnormalities in mosaic or non-mosaic conditions. We present a new patient of de novo mosaic supernumerary ring chromosome 8 which has trisomy of a region of chromosome 8p11.21-q21.13. Mosaicism for a ring chromosome was showed by routine karyotyping that revealed a karyotype of mos47,XY,+r(?) [47]/46,XY [36] and we performed array comparative genomic hybridization (array-CGH) in order to precisely define the extension about chromosomal origin of the duplicated region in a patient. Array-CGH analysis confirmed that the sSRC derived a 43.921 Mb genomic gain of chromosome 8 (p11.21-q21.13). Common clinical features of the patient included multiple congenital anomalies, developmental delay, thoracolumbar scoliosis, mild pulmonary stenosis, laryngomalacia, hypospadias and atypical facial appearance. With this study a patient involving mosaic trisomy 8p11.21-q21.13 along with clinical properties, is described and compared to previously reported cases involving partial trisomy 8q.
authors.forename: F Celep
authors.initials: FC
authors.lastname: Eyüpoğlu
authors.forename: D
authors.initials: D
authors.lastname: Sünnetçi
authors.forename: N
authors.initials: N
authors.lastname: Cine
authors.forename: H
authors.initials: H
authors.lastname: Savli
authors.forename: A
authors.initials: A
authors.lastname: Okten
authors.forename: E Gül
authors.initials: EG
authors.lastname: Açikgöz
authors.forename: F M
authors.initials: FM
authors.lastname: Sönmez
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002871:Chromosome Banding; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics; D020732:Cytogenetic Analysis; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D012734:Disorders of Sex Development / Q000175:diagnosis / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012303:Ring Chromosomes; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics*