Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.
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.
Petek
Erwin
E
Institute of Medical Biology and Human Genetics, Karl-Franzens University of Graz, Harrachgasse 21/8, A-8010 , Graz, Austria. petek@kfunigraz.ac.at.
Windpassinger
Christian
C
Institute of Medical Biology and Human Genetics, Karl-Franzens University of Graz, Harrachgasse 21/8, A-8010 , Graz, Austria.
Simma
Burkhard
B
Department of Pediatrics, Academic Teaching Hospital, Feldkirch, Austria.
Mueller
Thomas
T
Department of Pediatrics, Academic Teaching Hospital, Feldkirch, Austria.
Wagner
Klaus
K
Institute of Medical Biology and Human Genetics, Karl-Franzens University of Graz, Harrachgasse 21/8, A-8010 , Graz, Austria.
Kroisel
Peter M
PM
Institute of Medical Biology and Human Genetics, Karl-Franzens University of Graz, Harrachgasse 21/8, A-8010 , Graz, Austria.
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