{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T09:25:53Z","timestamp":1770888353197,"version":"3.50.1"},"reference-count":37,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3994,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>To date, 32 cases of partial 7p monosomy have been described, 14 of which have been associated with craniosynostosis (CRS). There is considerable variation in the size and location of the deleted segment. However, CRS appears to be consistently associated with either a deletion or partial deletion 7p21\u21927p22 or more rarely a deletion of 7p13\u21927p14.<\/jats:p><jats:p>Analysis of a panel of six 7p deletion cases (three with CRS) was undertaken using informative DNA probes, in order to characterize and define the extent of the deletions at the molecular level. There were five de novo deletions and one resulting from the unbalanced product of a paternal balanced insertion.<\/jats:p><jats:p>The putative proximal CRS locus at 7p13\u21927p14 does not appear to be allelic with Greig cephalopolysyndactyly syndrome. Three probe positions have been refined: pJ5.11 (D7S10) previously mapped to 7p14\u2192pter does not appear to map proximal to p15; TM102L (D7S135) does not map distal to p22; CRI\u2010P137 (D7S65) maps distal to 7p13. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320510320","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:15:25Z","timestamp":1118510125000},"page":"270-276","source":"Crossref","is-referenced-by-count":39,"title":["Six cases of 7p deletion: Clinical, cytogenetic, and molecular studies"],"prefix":"10.1002","volume":"51","author":[{"given":"Kokila A.","family":"Chotai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louise A.","family":"Brueton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lyn","family":"van Herwerden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Garrett","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georg K.","family":"Hinkel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert","family":"Schinzel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert F.","family":"Mueller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Speleman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robin M.","family":"Winter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400412"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1111\/j.1399-0004.1982.tb01382.x","article-title":"Deletions of the short arm of chromosome 7 without craniosynostosis","volume":"21","author":"Baccichetti C","year":"1982","journal-title":"Clin Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb02041.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb02064.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310412"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.10.681"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.6.453"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00399394"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(87)90158-9"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(89)90275-9"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(83)90418-9"},{"key":"e_1_2_1_13_1","first-page":"161","article-title":"A girl with karyotype 46, XX, del(7) (qter\u2010p15:)","volume":"26","author":"Friedrich U","year":"1975","journal-title":"Humangenetik"},{"key":"e_1_2_1_14_1","first-page":"45","article-title":"De novo partial 2q3 trisomy\/distal 7p22 monosomy in a malformed newborn with 7p deletion phenotype and craniosynostosis","volume":"28","author":"Fryns JP","year":"1985","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_15_1","first-page":"36","article-title":"De novo del (7) (pter p21.2::p15.2qter) and craniosynostosis","volume":"29","author":"Garcia\u2010Esquivel L","year":"1986","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440106"},{"key":"e_1_2_1_17_1","first-page":"189","article-title":"Oxycephaly","volume":"33","author":"Greig DM","year":"1926","journal-title":"Edinburgh Med J"},{"key":"e_1_2_1_18_1","first-page":"824","article-title":"7p\u2010deletions\u2010syndrom","volume":"136","author":"Hinkel GK","year":"1988","journal-title":"Monatsschr Kinderheilkd"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450127"},{"key":"e_1_2_1_20_1","volume-title":"Molecular Cloning: A Laboratory Manual","author":"Maniatis T","year":"1982"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00452107"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.4.316"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295627"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320040403"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283574"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283374"},{"key":"e_1_2_1_27_1","first-page":"239","article-title":"A patient with interstitial deletion 7(p13 p21)","volume":"24","author":"M\u00fcller U","year":"1981","journal-title":"Ann Genet"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01623.x"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00197167"},{"key":"e_1_2_1_30_1","first-page":"323","article-title":"Chromosome 7 short arm deletion, 7p21 pter","volume":"74","author":"Schomig\u2010Spingler M","year":"1986","journal-title":"Hum Genet"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.8.528"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1159\/000133167"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/352539a0"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(90)90035-S"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130457"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130849"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199201000-00010"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130436"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320510320","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320510320","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,26]],"date-time":"2024-01-26T15:34:55Z","timestamp":1706283295000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320510320"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,7]]},"references-count":37,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1994,7]]}},"alternative-id":["10.1002\/ajmg.1320510320"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320510320","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,7]]}}}