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We report nine individuals with 1q24q25 deletions, who show distinctive features of a clinically recognizable 1q24q25 microdeletion syndrome: prenatal\u2010onset microcephaly and proportionate growth deficiency, severe cognitive disability, small hands and feet with distinctive brachydactyly, single transverse palmar flexion creases, fifth finger clinodactyly and distinctive facial features: upper eyelid fullness, small ears, short nose with bulbous nasal tip, tented upper lip, and micrognathia. Radiographs demonstrate disharmonic osseous maturation with markedly delayed bone age. Occasional features include cleft lip and\/or palate, cryptorchidism, brain and spinal cord defects, and seizures. Using oligonucleotide\u2010based array comparative genomic hybridization, we defined the critical deletion region as 1.9\u2009Mb at 1q24.3q25.1 (chr1: 170,135,865\u2013172,099,327, hg18 coordinates), containing 13 genes and including <jats:italic>CENPL<\/jats:italic>, which encodes centromeric protein L, a protein essential for proper kinetochore function and mitotic progression. The growth deficiency in this syndrome is similar to what is seen in other types of primordial short stature with microcephaly, such as Majewski osteodysplastic primordial dwarfism, type II (MOPD2) and Seckel syndrome, which result from loss\u2010of\u2010function mutations in genes coding for centrosomal proteins. <jats:italic>DNM3<\/jats:italic> is also in the deleted region and expressed in the brain, where it participates in the Shank\u2013Homer complex and increases synaptic strength. Therefore, <jats:italic>DNM3<\/jats:italic> is a candidate for the cognitive disability, and <jats:italic>CENPL<\/jats:italic> is a candidate for growth deficiency in this 1q24q25 microdeletion syndrome. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34049","type":"journal-article","created":{"date-parts":[[2011,5,5]],"date-time":"2011-05-05T16:58:29Z","timestamp":1304614709000},"page":"1336-1351","source":"Crossref","is-referenced-by-count":43,"title":["Distinctive phenotype in 9 patients with deletion of chromosome 1q24\u2010q25"],"prefix":"10.1002","volume":"155","author":[{"given":"Deepika D'Cunha","family":"Burkardt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria 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