{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T16:40:58Z","timestamp":1745772058975},"reference-count":44,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2010,5,14]],"date-time":"2010-05-14T00:00:00Z","timestamp":1273795200000},"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":[[2010,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The combination of megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus (MPPH) is a rare syndrome of unknown cause. We observed two first cousins affected by an MPPH\u2010like phenotype with a submicroscopic chromosome 5q35 deletion as a result of an unbalanced der(5)t(5;20)(q35.2;q13.3) translocation, including the <jats:italic>NSD1<\/jats:italic> Sotos syndrome locus. We describe the phenotype and the deletion breakpoints of the two MPPH\u2010like patients and compare these with five unrelated MPPH and Sotos patients harboring a 5q35 microdeletion. Mapping of the breakpoints in the two cousins was performed by MLPA, FISH, high density SNP\u2010arrays and Q\u2010PCR for the 5q35 deletion and 20q13 duplication. The 5q35 deletion area of the two cousins almost completely overlaps with earlier described patients with an atypical Sotos microdeletion, except for the <jats:italic>DRD1<\/jats:italic> gene. The five unrelated MPPH patients neither showed submicroscopic chromosomal aberrations nor <jats:italic>DRD1<\/jats:italic> mutations. We reviewed the brain MRI of 10 Sotos patients and did not detect polymicrogyria in any of them. In our two cousins, the MPPH\u2010like phenotype is probably caused by the contribution of genes on both chromosome 5q35 and 20q13. Some patients with MPPH may harbor a submicroscopic chromosomal aberration and therefore high\u2010resolution array analysis should be part of the diagnostic workup. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33408","type":"journal-article","created":{"date-parts":[[2010,5,14]],"date-time":"2010-05-14T22:28:10Z","timestamp":1273876090000},"page":"1488-1497","source":"Crossref","is-referenced-by-count":9,"title":["Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus"],"prefix":"10.1002","volume":"152A","author":[{"given":"Annemieke J.M.H.","family":"Verkerk","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachel","family":"Schot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"van Waterschoot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannie","family":"Douben","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pino J.","family":"Poddighe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maarten H.","family":"Lequin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda S.","family":"de Vries","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulien","family":"Terhal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johanne M.D.","family":"Hahnemann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irenaeus F.M.","family":"de Coo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Claire Y.","family":"de Wit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leontien S.","family":"Wafelman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Livia","family":"Garavelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William B.","family":"Dobyns","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter J.","family":"Van der Spek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annelies","family":"de Klein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grazia M.S.","family":"Mancini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,5,14]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"433","article-title":"Partial trisomy 20q in a newborn with dextrocardia","volume":"13","author":"Addor MC","year":"2002","journal-title":"Genet Couns"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000183747.05269.2d"},{"key":"e_1_2_7_4_1","volume-title":"Disorders of Neuronal Migration. 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