Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 10889046.
- Also identified by PMC identifier 1287195.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
Seckel syndrome (MIM 210600) is an autosomal recessive disorder of low birth weight, severe microcephaly, and dysmorphic facial appearance with receding forehead, prominent nose, and micrognathia. We have performed a genomic screen in two consanguineous families of Pakistani origin and found that the disorder segregates with markers between loci D3S1316 and D3S3710, which map to chromosome 3q22.1-q24. Analysis using HOMOZ/MAPMAKER gave a maximum LOD score of 8.72. All five affected individuals were homozygous for the same allele, for two adjacent polymorphic markers within the region segregating with the disease, narrowing the region to 12 cM.
Medical subject headings
- Abnormalities, Multiple
- Chromosomes, Human, Pair 3
- Craniofacial Abnormalities