{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T04:48:13Z","timestamp":1766983693294},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,6,28]],"date-time":"2002-06-28T00:00:00Z","timestamp":1025222400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Partial or complete duplication of 5p is a rare chromosomal abnormality in which genotype\u2010phenotype correlation studies are hampered by other commonly associated chromosomal abnormalities. We report on a new patient in whom a complete de novo trisomy 5p in all metaphases represented the only chromosomal aberration. The present case further contributes to delineate the typical clinical picture of the trisomy 5p syndrome. Long\u2010term clinical follow\u2010up demonstrated low levels of secretory immunoglobulin A (IgA) on several occasions and likely related to the patient's recurrent respiratory infections (RRIs), a main clinical feature of the trisomy 5p syndrome. An extensive neuroradiological study detected a progressive triventricular hydrocephalus during the fist year of life with subsequent stabilization. Neuronal migration disorders were also present and probably account for the drug\u2010resistant epilepsy presented by the patient. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10679","type":"journal-article","created":{"date-parts":[[2002,10,9]],"date-time":"2002-10-09T02:32:57Z","timestamp":1034130777000},"page":"56-60","source":"Crossref","is-referenced-by-count":21,"title":["De novo complete trisomy 5p: Clinical and neuroradiological findings"],"prefix":"10.1002","volume":"112","author":[{"given":"Salvatore","family":"Grosso","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maddalena","family":"Cioni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianluca","family":"Garibaldi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia","family":"Pucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Galluzzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raffaello","family":"Canapicchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guido","family":"Morgese","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Balestri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,6,28]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991105)87:1<6::AID-AJMG2>3.0.CO;2-I"},{"key":"e_1_2_5_3_1","first-page":"586","volume-title":"Pediatric neuroimaging","author":"Barkovich AJ","year":"2000"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000196371"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.4.271"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130309"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550419"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1515\/BC.1999.160"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1994.tb04036.x"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb03472.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb03323.x"},{"key":"e_1_2_5_12_1","first-page":"35","article-title":"Immunoglobulins and innate factors of immunity in saliva of children prone to respiratory infections","volume":"95","author":"Lehtonen OP","year":"1987","journal-title":"Acta Pathol Microbiol Immunol Scand"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400210"},{"key":"e_1_2_5_14_1","first-page":"5767","article-title":"S\u00e9gr\u00e9gation familiale d'une translocation 5\u201013 determinant une monosomie et une trisomie partielles du bras court du chromosome 5: maladie de cri du chat et sa r\u00e8ciproque","volume":"258","author":"Lejeune J","year":"1964","journal-title":"CR Acad Sci"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273310"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970211)68:4<481::AID-AJMG22>3.0.CO;2-N"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.5.394"},{"key":"e_1_2_5_18_1","first-page":"1","article-title":"Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype","volume":"39","author":"Overhauser J","year":"1986","journal-title":"Am J Med Genet"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<447::AID-AJMG3>3.0.CO;2-5"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300403"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470814"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560410"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10679","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10679","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T14:30:07Z","timestamp":1700317807000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10679"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,6,28]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2002,9,15]]}},"alternative-id":["10.1002\/ajmg.10679"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10679","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,6,28]]}}}