{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T20:22:54Z","timestamp":1775074974981,"version":"3.50.1"},"reference-count":26,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,3,19]],"date-time":"2014-03-19T00:00:00Z","timestamp":1395187200000},"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 A"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report on a young child with intellectual disability and unilateral coronal craniosynostosis leading to craniofacial malformations. Standard karyotype showed an apparently balanced translocation between chromosomes 2 and 15 [t(2;15)(q21;q21.3)], inherited from his mother. Interestingly, array\u2010CGH 180K showed a 3.64\u2009Mb de novo deletion on chromosome 15 in the region 15q21.3q22.2, close to the chromosome 15 translocation breakpoints. This deletion leads to haploinsufficiency of <jats:italic>TCF12<\/jats:italic> gene that can explain the coronal craniosynostosis described in the patient. Additional FISH analyses showed a complex balanced maternal chromosomal rearrangement combining the reciprocal translocation t(2;15)(q21;q21.3), and an insertion of the 15q22.1 segment into the telomeric region of the translocated 15q fragment. The genomic imbalance in the patient is likely caused by a crossing\u2010over that occurs in the recombination loop formed during the maternal meiosis resulting in the deletion of the inserted fragment. This original case of a genomic microdeletion of <jats:italic>TCF12<\/jats:italic> exemplifies the importance of array\u2010CGH in the clinical investigation of apparently balanced rearrangements but also the importance of FISH analysis to identify the chromosomal mechanism causing the genomic imbalance. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36467","type":"journal-article","created":{"date-parts":[[2014,3,19]],"date-time":"2014-03-19T19:27:21Z","timestamp":1395257241000},"page":"1530-1536","source":"Crossref","is-referenced-by-count":16,"title":["Maternal complex chromosomal rearrangement leads to <i>TCF12<\/i> microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability"],"prefix":"10.1002","volume":"164","author":[{"given":"Pauline","family":"Le Tanno","sequence":"first","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Chromosomique D\u00e9partement de G\u00e9n\u00e9tique et Procr\u00e9ation 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