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Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24
- Source :
- American journal of human genetics. 67(2)
- Publication Year :
- 2000
-
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.
- Subjects :
- Male
Microcephaly
Genotype
Locus (genetics)
Genes, Recessive
Consanguinity
Biology
Craniofacial Abnormalities
03 medical and health sciences
0302 clinical medicine
Gene mapping
Report
medicine
Genetics
otorhinolaryngologic diseases
Humans
Genetics(clinical)
Abnormalities, Multiple
Pakistan
Allele
10. No inequality
Child
Genetics (clinical)
030304 developmental biology
0303 health sciences
Infant, Newborn
Chromosome Mapping
Infant
Syndrome
medicine.disease
Osteochondrodysplasia
Pedigree
Seckel syndrome
Genetic marker
Child, Preschool
Female
Chromosomes, Human, Pair 3
Lod Score
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 00029297
- Volume :
- 67
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- American journal of human genetics
- Accession number :
- edsair.doi.dedup.....8ec7e9b2bc79c87cddd0b4e1e7b56003