A new locus for Seckel syndrome on chromosome 18p11.31-q11.2

  title={A new locus for Seckel syndrome on chromosome 18p11.31-q11.2},
  author={Anders D. B\orglum and Thomas Balslev and Annette Haagerup and Niels Holtum Birkeb{\ae}k and Helle Glud Binderup and Torben Arvid Kruse and Jens Michael Hertz},
  journal={European Journal of Human Genetics},
Seckel syndrome (MIM 210600) is a rare autosomal recessive disorder with a heterogeneous appearance. Key features are growth retardation, microcephaly with mental retardation, and a characteristic ‘bird-headed’ facial appearance. We have performed a genome-wide linkage scan in a consanguineous family of Iraqi descent. By homozygosity mapping a new locus for… CONTINUE READING