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Monosomy 1p36 deletion syndrome.
Am J Med Genet C Semin Med Genet
November 2007
Department of Health Research and Education at Washington State University in Spokane, 99210-1495, USA.
Monosomy 1p36 results from a heterozygous deletion of the most distal chromosomal band on the short arm of chromosome 1. Occurring in approximately 1 in 5,000 live births, monosomy 1p36 is the most common terminal deletion observed in humans. Monosomy 1p36 is associated with mental retardation, developmental delay, hearing impairment, seizures, growth impairment, hypotonia, and heart defects.
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