{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T05:43:04Z","timestamp":1770356584622,"version":"3.49.0"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,2,25]],"date-time":"2005-02-25T00:00:00Z","timestamp":1109289600000},"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":[[2005,4]]},"abstract":"<jats:p>Cri du Chat syndrome (CdCs) is a well\u2010defined clinical entity, with an incidence of 1\/15,000 to 1\/50,000. The critical region for CdCs has been mapped to 5p15, with the hallmark cat\u2010like cry sublocalized to 5p15.3 and the remaining clinical features to 5p15.2. We report findings in a subject with a<jats:italic>de novo<\/jats:italic>t(5;7)(p15.2;p12.2) and an inv(3)(p24q24), who was found to have a cryptic microdeletion in the critical region for CdCs detected using a 1\u2010Mb genomic microarray. In addition to 5p deletion, the proband had a<jats:italic>de novo<\/jats:italic>single clone loss at the 3p breakpoint of inv(3)(p24q24) and a familial single clone deletion at 18q12. Deletions were confirmed using microsatellite analysis and fluorescence<jats:italic>in situ<\/jats:italic>hybridization. The 5p deletion encompasses approximately 3\u2003Mb, mapping to the border between bands 5p15.2 and 5p15.31. The single clone deletion on chromosome 3 maps to 3p24.3\u20103p25, for which there is no known phenotype. The clinical features of our proband differ from the characteristic CdC phenotype, which may reflect the combined effect of the two<jats:italic>de novo<\/jats:italic>microdeletions and\/or may further refine the critical region for CdCs. Typical features of CdCs that are present in the proband include moderate intellectual disability, speech, and motor delay as well as dysmorphic features (e.g. broad and high nasal root, hypertelorism, and coarse facies). Expected CdCs features that are not present are growth delay, microcephaly, round facies, micrognathia, epicanthal folds, and the signature high\u2010pitched cry. Behavioral traits in this subject included autism spectrum disorder, attention\u2010deficit hyperactivity disorder, and unmanageable behavior including aggression, tantrums, irritability, and self\u2010destructive behavior. Several of these behaviors have been previously reported in patients with 5p deletion syndrome. Although most agree on the cat\u2010cry critical region (5p15.3), there is discrepancy in the precise location and size of the region associated with the more severe manifestations of CdCs. The clinical description of this proband and the characterization of his 5p deletion may help to further refine the phenotype\u2013genotype associations in CdCs and autism spectrum disorder.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2005.00406.x","type":"journal-article","created":{"date-parts":[[2005,2,25]],"date-time":"2005-02-25T22:15:09Z","timestamp":1109369709000},"page":"341-351","source":"Crossref","is-referenced-by-count":31,"title":["A variant Cri du Chat phenotype and autism spectrum disorder in a subject with<i>de novo<\/i>cryptic microdeletions involving 5p15.2 and 3p24.3\u201025 detected using whole genomic array 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