{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:00:34Z","timestamp":1791327634617,"version":"4.3.1"},"reference-count":52,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,1,26]],"date-time":"2010-01-26T00:00:00Z","timestamp":1264464000000},"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 C"],"published-print":{"date-parts":[[2010,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Holoprosencephaly (HPE), the most common developmental defect of the forebrain and midface, is caused by a failure of midline cleavage early in gestation. Isolated HPE, which is highly genetically heterogeneous, can be due to major chromosomal abnormalities. Initially, karyotype approach led to the identification of several recurrent chromosomal anomalies predicting different HPE loci. Subsequently, several genes were isolated from these critical HPE regions, but point mutations and deletions in these genes were found only in 25% of the genetic cases. In order to identify other HPE genes, a more accurate investigation of the genome in HPE patients was necessary. To date, high\u2010resolution cytogenetic techniques such as subtelomeric multiplex ligation\u2010dependent probe amplification (MLPA) and microarray\u2010based comparative genomic hybridization (array CGH) have enhanced chromosomal aberration analysis. In this article, we have updated the cytogenetic anomalies associated with HPE in a map listing all the subtelomeric and interstitial deletions that have been characterized either by karyotype, MLPA, or array CGH. The accumulation of recurrent genomic imbalances will lead to the further delineation of minimal critical HPE loci, which is the first step to the identification of new HPE genes. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.30250","type":"journal-article","created":{"date-parts":[[2010,1,26]],"date-time":"2010-01-26T22:19:32Z","timestamp":1264544372000},"page":"86-92","source":"Crossref","is-referenced-by-count":46,"title":["Holoprosencephaly: An update on cytogenetic abnormalities"],"prefix":"10.1002","volume":"154C","author":[{"given":"Claude","family":"Bendavid","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Dup\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucie","family":"Rochard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Gicquel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christ\u00e8le","family":"Dubourg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"David","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,1,26]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21094"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt1203"},{"key":"e_1_2_8_4_1","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/s00439-002-0862-8","article-title":"Molecular screening of the TGIF gene in holoprosencephaly: Identification of two novel mutations","volume":"112","author":"Aguilella C","year":"2003","journal-title":"Hum Genet"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-353"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-0097-6"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.037176"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20594"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21016"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/302041"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/2484"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.8.791"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1067\/mob.2001.111071"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32563"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960823)64:3<465::AID-AJMG4>3.0.CO;2-O"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0709-3"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20056"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-8"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/76074"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30242"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2005.01.010"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0010-8"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000220609.17284.a9"},{"key":"e_1_2_8_24_1","article-title":"MEF2C haploinsufficiency caused either by microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and\/or cerebral malformations","author":"Le Meur N","year":"2009","journal-title":"J Med Genet"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30149"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1245"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1086\/506371"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0695-5"},{"key":"e_1_2_8_29_1","first-page":"9","volume-title":"Congenital malformations of the brain. 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