{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T03:58:56Z","timestamp":1780545536482,"version":"3.54.1"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2009,4,7]],"date-time":"2009-04-07T00:00:00Z","timestamp":1239062400000},"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":[[2009,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pallister\u2013Killian syndrome (PKS) is a genetic disorder characterized by mental retardation, seizures, streaks of hypo\u2010 or hyperpigmentation and dysmorphic features. PKS is associated with tissue\u2010limited mosaic partial tetrasomy of 12p, usually caused by an isochromosome 12p. The mosaicism is usually detected in cultured skin fibroblasts or amniotic cells and rarely in phytohemagluttinin\u2010stimulated lymphocytes, which suggests stimulation of T\u2010lymphocytes may distort the percentage of abnormal cells. We recently reported on the identification by microarray\u2010based comparative genomic hybridization (aCGH) of a previously unsuspected case of partial tetrasomy of 12p caused by an isochromosome 12p. Here we report on seven additional individuals with partial tetrasomy of 12p characterized by our laboratory. All individuals were referred for mental retardation\/developmental delay and\/or dysmorphic features. In each case, aCGH using genomic DNA extracted from whole peripheral blood detected copy\u2010number gain for all clones for the short arm of chromosome 12. In all but one case, FISH on metaphases from cultured lymphocytes did not detect the copy\u2010number gain; in the remaining case, metaphase FISH on cultured lymphocytes showed an isochromosome in 10% of cells. However, interphase FISH using probes to 12p on peripheral blood smears showed additional hybridization signals in 18\u201370% of cells. Microarray and FISH analysis on cultured skin biopsies from four individuals confirmed the presence of an isochromosome 12p. Our results demonstrate the usefulness of aCGH with genomic DNA from whole peripheral blood to detect chromosome abnormalities that are not present in stimulated blood cultures and would otherwise require invasive skin biopsies for identification. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32767","type":"journal-article","created":{"date-parts":[[2009,4,7]],"date-time":"2009-04-07T18:52:49Z","timestamp":1239130369000},"page":"914-918","source":"Crossref","is-referenced-by-count":42,"title":["aCGH detects partial tetrasomy of 12p in blood from Pallister\u2013Killian syndrome cases without invasive skin biopsy"],"prefix":"10.1002","volume":"149A","author":[{"given":"Aaron","family":"Theisen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra 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