{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,9]],"date-time":"2025-12-09T03:50:06Z","timestamp":1765252206482},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T00:00:00Z","timestamp":1390435200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:sec><jats:label \/><jats:p>Monosomy 21 is a very rare chromosomal abnormality. At least 45 patients with partial deletion involving 21q11 have been reported. Here, we report a Japanese boy who presented with pre\u2010 and postnatal growth delays, psychomotor developmental delay, microcephaly, and iris coloboma. Cytogenetic analysis revealed a de novo 1.4\u2010Mb deletion at 21q22.11 containing 19 protein\u2010coding RefSeq genes. We compared the clinical phenotypes between the present patient and 16 previously reported patients with a deleted region associated with postnatal growth delay and psychomotor developmental delay. Interestingly, <jats:italic>ITSN1<\/jats:italic> was the only gene deleted or disrupted in all cases; this gene is known to be associated with intellectual disability. Microcephaly and brain structural abnormalities including polymicrogyria and agenesis\/hypoplasia of the corpus callosum may also result from haploinsufficiency of <jats:italic>ITSN1<\/jats:italic>, highlighting its clinical significance for the neurological features of patients with monosomy 21. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36377","type":"journal-article","created":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T23:45:52Z","timestamp":1390520752000},"page":"1021-1028","source":"Crossref","is-referenced-by-count":15,"title":["A de novo 1.4\u2010Mb deletion at 21q22.11 in a boy with developmental delay"],"prefix":"10.1002","volume":"164","author":[{"given":"Ryoko","family":"Fukai","sequence":"first","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"},{"name":"Department of Neurology and Stroke Medicine Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoko","family":"Hiraki","sequence":"additional","affiliation":[{"name":"Hiroshima Municipal Center for Child Health and Development Hiroshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Department of Pediatric Imaging Tokyo Metropolitan Children's Medical Center Fuchu Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuko","family":"Nakashima","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshinori","family":"Tsurusaki","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,1,23]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"807","volume-title":"Chromosome 21","author":"Albert S","year":"2001"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200103000-00002"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.89"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199401000-00011"},{"key":"e_1_2_6_6_1","unstructured":"BraddockSR SchiffmanJD SarahT SouthST CareyJC.2011.Braddock\u2010Carey syndrome: A twenty year journey ends with a new microdeletion syndrome. 32nd Annual David W. 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