title: Syndromal frontonasal dysostosis in a child with a complex translocation involving chromosomes 3, 7, and 11.
abstract: We report on a 4-year-old boy with typical frontonasal dysostosis and an apparently balanced de novo translocation involving chromosomes 3, 7, and 11, and four breakpoints. The karyotype was 46,XY,t(7;3)(3;11) (7pter-->7q21.3::3q27-->3qter;3pter-->3 q23::11q21-->11qter; 11pter-->11q21::3q23-->3q27::7q21.3-->7 qter). In situ hybridization with a chromosome 3 painting probe confirmed the interpretation from GTG banding. The child had a widow's peak, marked hypertelorism, absence of the nasal tip, and widely separated nares. He also had an atrial septal defect, micropenis, small testes, clubfeet, scoliosis, block C2-4, and structural brain abnormalities on MRI. In review we found two other cases of frontonasal dysostosis with chromosome abnormalities, neither of which was similar to our case. The presence of a de novo (apparently) balanced translocation in our patient may help to locate the gene(s) for frontonasal dysplasia and perhaps other midline craniofacial malformations.
authors.affiliation: Department of Pediatrics, University of Tennessee, USA.
authors.forename: C A
authors.initials: CA
authors.lastname: Stevens
authors.forename: M B
authors.initials: MB
authors.lastname: Qumsiyeh
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11; D002893:Chromosomes, Human, Pair 3; D002897:Chromosomes, Human, Pair 7; D005145:Face / Q000002:abnormalities; D006256:Hazardous Waste / Q000009:adverse effects; D006801:Humans; D017403:In Situ Hybridization; D007621:Karyotyping; D008297:Male; D009666:Nose / Q000002:abnormalities*; D013577:Syndrome; D014178:Translocation, Genetic
chemical_list: D006256:Hazardous Waste