title: Partial trisomy (11;22) syndrome with manifestations of Goldenhar sequence due to maternal balanced t(11;22).
abstract: Here we report a 15-year-old girl patient who had severe mental and growth retardation, cleft palate, hemifacial microsomia, skin tags, hypoplasia of the external auditory canal, scoliosis and renal agenesis. Our patient was the fourth child of nonconsanguineous marriage. Peripheral blood chromosomal analysis of the patient revealed 47,XX,+der(22)t(11;22)(q23;q11). The maternal karyotype was reported as 46,XX,t(11;22)(q23;q11). Maternal balanced translocation t(11;22)(q23;q11) causing Goldenhar syndrome with 47,XX,+der(22) has not been reported previously. The presented case clearly indicates that in every case with Goldenhar syndrome, chromosome analysis should be done for the possibility of unbalanced translocations.
authors.affiliation: Department of Clinical Genetics, Hacettepe University Faculty of Medicine, Ihsan Doğramaci Children's Hospital, Sihhiye, Ankara, Turkey. sbalci@hacettepe.edu.tr
authors.forename: S
authors.initials: S
authors.lastname: Balci
authors.forename: O
authors.initials: O
authors.lastname: Engiz
authors.forename: Z
authors.initials: Z
authors.lastname: Yilmaz
authors.forename: V
authors.initials: V
authors.lastname: Baltaci
mesh_terms: D000293:Adolescent; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D005260:Female; D006053:Goldenhar Syndrome / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009035:Mothers; D010641:Phenotype; D035781:Siblings; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics*