{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:42:59Z","timestamp":1764171779281},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,2,25]],"date-time":"2003-02-25T00:00:00Z","timestamp":1046131200000},"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":[[2003,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 12\u2010year\u2010old boy who presented with delayed development and CNS dysmyelination. Genetic studies showed a normal 46,XY karyotype by routine cytogenetic analysis, and 46,XY.ish del(18)(q23)(D18Z1+, MBP\u2212) by FISH using a locus\u2010specific probe for the <jats:italic>MBP<\/jats:italic> gene (18q23)<jats:italic>.<\/jats:italic> Though the patient appeared to have normal chromosome 18s by repeated high resolution banding analysis, his clinical features were suggestive of a deletion of 18q. These included hearing loss secondary to stenosis of the external auditory canals, abnormal facial features, and foot deformities. FISH studies with genomic probes from 18q22.3 to 18qter confirmed a cryptic deletion which encompassed the <jats:italic>MBP<\/jats:italic> gene. In an attempt to further characterize the deletion, whole genome screening was conducted using array based comparative genomic hybridization (array CGH) analysis. The array CGH data not only confirmed a cryptic deletion in the 18q22.3 to 18qter region of approximately 7 Mb, it also showed a previously undetected 3.7 Mb gain of 4q material. FISH studies demonstrated that the gained 4q material was translocated distal to the 18qter deletion breakpoint. The 18q deletion contains, in addition to <jats:italic>MBP<\/jats:italic>, other known genes including <jats:italic>CYB5<\/jats:italic>, <jats:italic>ZNF236<\/jats:italic>, <jats:italic>GALR1<\/jats:italic>, and <jats:italic>NFATC1<\/jats:italic>, while the gained 4q material includes the genes <jats:italic>FACL1<\/jats:italic> and <jats:italic>2<\/jats:italic>, <jats:italic>KLKB1, F11<\/jats:italic> and <jats:italic>MTNR1A.<\/jats:italic> The use of these combined methodologies has resulted in the first reported case in which array CGH has been used to characterize a congenital chromosomal abnormality, highlighting the need for innovative molecular cytogenetic techniques in the diagnosis of patients with idiopathic neurological abnormalities. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20026","type":"journal-article","created":{"date-parts":[[2003,6,4]],"date-time":"2003-06-04T10:07:08Z","timestamp":1054721228000},"page":"127-135","source":"Crossref","is-referenced-by-count":32,"title":["Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q"],"prefix":"10.1002","volume":"120A","author":[{"given":"Shelly R.","family":"Gunn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mansoor","family":"Mohammed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xavier T.","family":"Reveles","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David H.","family":"Viskochil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janice C.","family":"Palumbos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa L.","family":"Johnson\u2010Pais","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel E.","family":"Hale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jack L.","family":"Lancaster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. 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