{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T06:34:31Z","timestamp":1787726071610,"version":"build-2784847793"},"reference-count":49,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,3,24]],"date-time":"2014-03-24T00:00:00Z","timestamp":1395619200000},"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":[[2014,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>Neuroblastoma is the most frequent extra cranial solid tumor in infants and children. Genetic predisposition to neuroblastoma has been suspected previously due to familial cases of sporadic NB and predisposition to NB in several syndromes. Here, we report on a de novo 14q23.1\u2013q23.3 microdeletion in a male presenting with a neuroblastoma diagnosed at 9 months, and spherocytosis, congenital heart defect, cryptorchidism, hypoplasia of corpus callosum, epilepsy, and developmental delay. Myc\u2010associated\u2010factor X (<jats:italic>MAX<\/jats:italic>) haploinsufficiency could be regarded as the predisposing factor to NB. Indeed 14q deletion is a recurrent somatic rearrangement in NB and <jats:italic>MAX<\/jats:italic> somatic and germline loss of function mutation have recently been described in pheochromocytoma and paraganglioma. However, <jats:italic>MAX<\/jats:italic> was expressed in the tumor of the patient we report on and, accordingly, loss of heterozygosity, mutation, or promoter methylation were excluded. In addition, we discuss the potential involvement in the clinical spectrum presented by the patient of five of the deleted genes, namely <jats:italic>DAAM1<\/jats:italic>, <jats:italic>PLEKHG3<\/jats:italic>, <jats:italic>SPTB<\/jats:italic>, <jats:italic>AKAP5<\/jats:italic>, and <jats:italic>ARID4A<\/jats:italic>. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36452","type":"journal-article","created":{"date-parts":[[2014,3,25]],"date-time":"2014-03-25T02:52:28Z","timestamp":1395715948000},"page":"1310-1317","source":"Crossref","is-referenced-by-count":12,"title":["Multiple congenital anomalies\u2010intellectual disability (MCA\u2010ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion"],"prefix":"10.1002","volume":"164","author":[{"given":"Daphn\u00e9","family":"Lehalle","sequence":"first","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique Histologie\u2010Embryologie\u2010Cytog\u00e9n\u00e9tique H\u00f4pital 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