{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:46:22Z","timestamp":1764171982554,"version":"3.40.4"},"reference-count":12,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"},{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2010]]},"abstract":"<jats:p>Cri-du-chat syndrome is caused by haploinsufficiency of the genes on the distal part of the short arm of chromosome 5, and characteristic features include microcephaly, developmental delays, and a distinctive high-pitched mewing cry. Most cri-du-chat syndrome cases result from a sporadic de novo deletion that is associated with a low recurrence risk. On rare occasions, however, cri-du-chat syndrome with 5p monosomy can be accompanied by 5q trisomy. This combination is virtually always associated with parental large pericentric inversions. Among previously reported cri-du-chat syndrome cases with 5p monosomy accompanied by 5q trisomy, the aneusomy of chromosome 5 in all but one case was cytogenetically visible using G-banding. When an accompanying 5q trisomy is detected, a significant recurrence risk is expected. We here report on a patient with cri-du-chat syndrome phenotype who initially exhibited a normal karyotype on G-banding but in whom molecular analysis using multiplex ligation-dependent probe amplification and array comparative genomic hybridization revealed a 5p deletion accompanied by a 5q duplication. Parental chromosomal testing led to the identification of a very large pericentric inversion, of which breakpoints resided at the terminal regions of 5p15.31 and 5q35.1. This information was vital for counseling the family regarding the significantly high recurrence risk.<\/jats:p>","DOI":"10.1159\/000319321","type":"journal-article","created":{"date-parts":[[2010,8,18]],"date-time":"2010-08-18T08:55:21Z","timestamp":1282121721000},"page":"95-98","source":"Crossref","is-referenced-by-count":1,"title":["Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk Estimation"],"prefix":"10.1159","volume":"1","author":[{"given":"Y.","family":"Ohnuki","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Torii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Kosaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Yagihashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Sago","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Yasukawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Kosaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2010,8,13]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1159%2F000086903"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.1984.tb04369.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00285171"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1159%2F000130206"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.10261"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00394291"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007%2FBF01874142"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.2005.00545.x"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1093%2Fnar%2Fgnf056"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.273.5274.494"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.1986.tb00608.x"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1086%2F427762"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/319321","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/319321","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:40:53Z","timestamp":1745437253000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000319321"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010]]},"references-count":12,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2010,8,1]]},"published-print":{"date-parts":[[2010,8,25]]}},"URL":"https:\/\/doi.org\/10.1159\/000319321","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2010]]}}}