METHOD FOR DETECTING CHROMOSOME DEFICIENCIES FOR CONGENITAL ABNORMALITY

摘要

An object the present invention is to analyze human chromosomes in terms of the presence of a duplication or deletion so as to determine the cause of a multiple congenital anomaly syndrome accompanying mental retardation, to thereby provide a method for determining whether or not a human subject has the syndrome. The present invention includes detecting a hemizygote deletion in the region 10q24.31-10q25.1 of a human chromosome of a human subject, to thereby determine whether or not the subject has a multiple congenital anomaly syndrome accompanying mental retardation. The detection is preferably carried out by hybridizing a reference nucleic acid fragment including a part of the 10q24.31-10q25.1 region with a nucleic acid fragment of a specimen, and detecting a signal attributed to the hemizygote deletion of the 10q24.31-10q25.1 region.