title: Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.
abstract: We describe the case of a 22-month-old boy with developmental and psychomotor retardation as well as craniofacial dysmorphism, including a cleft lip. Analysis of G-banded chromosomes of the propositus showed a de novo interstitial deletion of the short arm of chromosome 3, del(3)(p13p11). Fine mapping of the deletion was performed using fluorescence in situ hybridisation analysis with region-specific BAC clones. Eight BACs were absent from one chromosome 3 from the patient. Molecular analyses of eleven polymorphic DNA markers helped to narrow down the breakpoints and demonstrated that the derivative chromosome 3 is of paternal origin. The deleted segment encompasses about 15 Mb between marker D3S3551 and the centromere. Only a small number of known genes, including PROK2, GPR27, RYBP, PPP4R2, ROBO1, and GBE1, which map in the 3p13-p11 region are included in the deletion.
authors.affiliation: Institute of Medical Biology and Human Genetics, Karl-Franzens University of Graz, Harrachgasse 21/8, A-8010 , Graz, Austria. petek@kfunigraz.ac.at.
authors.forename: Erwin
authors.initials: E
authors.lastname: Petek
authors.affiliation: Institute of Medical Biology and Human Genetics, Karl-Franzens University of Graz, Harrachgasse 21/8, A-8010 , Graz, Austria.
authors.forename: Christian
authors.initials: C
authors.lastname: Windpassinger
authors.affiliation: Department of Pediatrics, Academic Teaching Hospital, Feldkirch, Austria.
authors.forename: Burkhard
authors.initials: B
authors.lastname: Simma
authors.affiliation: Department of Pediatrics, Academic Teaching Hospital, Feldkirch, Austria.
authors.forename: Thomas
authors.initials: T
authors.lastname: Mueller
authors.affiliation: Institute of Medical Biology and Human Genetics, Karl-Franzens University of Graz, Harrachgasse 21/8, A-8010 , Graz, Austria.
authors.forename: Klaus
authors.initials: K
authors.lastname: Wagner
authors.affiliation: Institute of Medical Biology and Human Genetics, Karl-Franzens University of Graz, Harrachgasse 21/8, A-8010 , Graz, Austria.
authors.forename: Peter M
authors.initials: PM
authors.lastname: Kroisel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002971:Cleft Lip / Q000473:pathology / Q000601:surgery; D002658:Developmental Disabilities / Q000235:genetics*; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010375:Pedigree