Medizinische Universität Graz - Research portal
Selected Publication:
Petek, E; Windpassinger, C; Simma, B; Mueller, T; Wagner, K; Kroisel, PM.
Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.
J Hum Genet. 2003; 48(6):283-287
Doi: 10.1007/s10038-003-0023-5
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- Leading authors Med Uni Graz
- Petek Erwin
- Co-authors Med Uni Graz
- Kroisel Peter
- Müller Thomas
- Wagner Klaus
- Windpassinger Christian
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Abnormalities, Multiple - genetics
- Chromosome Banding - genetics
- Chromosome Deletion - genetics
- Chromosome Mapping - genetics
- Chromosomes, Human, Pair 3 - genetics
- Cleft Lip - pathology
- Developmental Disabilities - genetics
- Haplotypes - genetics
- Heterozygote - genetics
- Humans - genetics
- Infant - genetics
- Karyotyping - genetics
- Male - genetics
- Pedigree - genetics
- Find related publications in this database (Keywords)
- chromosome 3p
- cleft lip
- developmental delay
- interstitial deletion
- mental retardation