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Case Reports
. 2000 Aug;67(2):498-503.
doi: 10.1086/303023. Epub 2000 Jul 11.

Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24

J Goodship  1 , H Gill, J Carter, A Jackson, M Splitt, M Wright
Affiliations
Case Reports

Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24

J Goodship et al. Am J Hum Genet. 2000 Aug.

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.

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Figures

Figure 1
Figure 1
A, Pedigree of family 1. B, Pedigree of family 2.
Figure 2
Figure 2
Facial appearance of V6, showing microcephaly, receding forehead, micrognathia, prominent nose, and dental malocclusion. The ears are posteriorly rotated, with deficient lobes.
Figure 3
Figure 3
Multipoint LOD score for chromosome 3 markers.
See this image and copyright information in PMC

References

Electronic-Database Information

    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim (for Seckel syndrome [MIM 210600], AT [MIM 208900], NBS [MIM 251260], and BLM [MIM 210900])
    1. Unified Database for Human Genome Mapping, The http://bioinformatics.weizmann.ac.il/udb (for markers)

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