{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T05:46:06Z","timestamp":1784180766847,"version":"3.55.0"},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2007,8,29]],"date-time":"2007-08-29T00:00:00Z","timestamp":1188345600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2007,10]]},"abstract":"<jats:p>Monosomy 1p36 is the most common terminal deletion syndrome with an estimated occurrence of 1:5000 live births. Typically, the deletions span &lt;10\u2003Mb of 1pter\u20101p36.23 and result in mental retardation, developmental delay, sensorineural hearing loss, seizures, cardiomyopathy and cardiovascular malformations, and distinct facies including large anterior fontanel, deep\u2010set eyes, straight eyebrows, flat nasal bridge, asymmetric ears, and pointed chin. We report five patients with \u2018atypical\u2019 proximal interstitial deletions from 1p36.23\u20101p36.11 using array\u2010comparative genomic hybridization. Four patients carry large overlapping deletions of \u223c9.38\u201314.69\u2003Mb in size, and one patient carries a small 2.97\u2003Mb deletion. Interestingly, these patients manifest many clinical characteristics that are different from those seen in \u2018classical\u2019 monosomy 1p36 syndrome. The clinical presentation in our patients included: pre\u2010 and post\u2010natal growth deficiency (mostly post\u2010natal), feeding difficulties, seizures, developmental delay, cardiovascular malformations, microcephaly, limb anomalies, and dysmorphic features including frontal and parietal bossing, abnormally shaped and posteriorly rotated ears, hypertelorism, arched eyebrows, and prominent and broad nose. Most children also displayed hirsutism. Based on the analysis of the clinical and molecular data from our patients and those reported in the literature, we suggest that this chromosomal abnormality may constitute yet another deletion syndrome distinct from the classical distal 1p36 deletion syndrome.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2007.00876.x","type":"journal-article","created":{"date-parts":[[2007,9,1]],"date-time":"2007-09-01T15:30:24Z","timestamp":1188660624000},"page":"329-338","source":"Crossref","is-referenced-by-count":52,"title":["Identification of proximal 1p36 deletions using array\u2010CGH: a possible new syndrome"],"prefix":"10.1111","volume":"72","author":[{"given":"S\u2010HL","family":"Kang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Scheffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z","family":"Ou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Scaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Belmont","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SR","family":"Lalani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Roeder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Enciso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Braddock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Buchholz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Vacha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"AC","family":"Chinault","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SW","family":"Cheung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CA","family":"Bacino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,8,29]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genet.34.1.297"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.023861"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/515520"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.2.313"},{"key":"e_1_2_7_6_2","first-page":"657","article-title":"Monosomy 1p36","volume":"36","author":"Slavotinek A","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10577-006-1044-7"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00126.x"},{"key":"e_1_2_7_9_2","unstructured":"KangS\u2010HL BacinoCA LiJet al.Delineation of deletion breakpoints in patients with monosomy 1p36 using a combination of Chromosomal Microarray Analysis and FISH. 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