A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34

• Published in: American journal of human genetics Vol. 66; no. 2; pp. 724 - 727
• Main Authors: Moynihan, Leanne, Jackson, Andrew P., Roberts, Emma, Karbani, Gulshan, Lewis, Ian, Corry, Peter, Turner, Gwen, Mueller, Robert F., Lench, Nicholas J., Woods, C. Geoffrey
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.02.2000; University of Chicago Press; The American Society of Human Genetics
• Subjects: Autozygosity mapping; Biological and medical sciences; Chromosome 9q34; Chromosome Mapping; Chromosomes, Human, Pair 9 - genetics; Consanguinity; Female; Genes, Recessive - genetics; Genetic Heterogeneity; Humans; Lod Score; Male; Malformations of the nervous system; Medical sciences; Microcephaly; Microcephaly - genetics; Neurology; Pedigree; Consanguinity; Microcephaly; Autozygosity mapping; Chromosome 9q34; Genetic mapping; Human; Nervous system diseases; Linkage; Family study; Pathogenesis; Developmental disorder; Congenital disease; Mental retardation; Genetic determinism; Chromosome C9; Cerebral disorder; Genetic disease; Phenotype; Malformation; Autosomal character; Central nervous system disease; Intellectual deficiency; Recessive character

Primary autosomal recessive microcephaly is a clinical diagnosis of exclusion in an individual with a head circumference ⩾4 SDs below the expected age-and-sex mean. There is associated moderate mental retardation, and neuroimaging shows a small but structurally normal cerebral cortex. The inheritanc...