{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:46:21Z","timestamp":1764171981531},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,4,11]],"date-time":"2011-04-11T00:00:00Z","timestamp":1302480000000},"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":[[2011,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Split hand\/foot malformation (SHFM) is characterized by underdeveloped or absent central digital rays, clefts of hands and feet, and variable syndactyly of the remaining digits. SHFM is a heterogeneous condition caused by abnormalities at one of multiple loci, including SHFM1 (<jats:italic>SHFM1<\/jats:italic> at 7q21\u2013q22), SHFM2 (Xq26), SHFM3 (<jats:italic>FBXW4\/DACTYLIN<\/jats:italic> at 10q24), SHFM4 (<jats:italic>TP63<\/jats:italic> at 3q27), and SHFM5 (<jats:italic>DLX1<\/jats:italic> and <jats:italic>DLX 2<\/jats:italic> at 2q31). SHFM3 is unique in that it is caused by submicroscopic tandem chromosome duplications of <jats:italic>FBXW4\/DACTYLIN<\/jats:italic>. In order to show that array\u2010based comparative genomic hybridization should be considered an essential aspect of the genetic analysis of patients with SHFM, we report on a family with two brothers who have ectrodactyly. Interestingly, both also have ocular abnormalities. Their sister and both parents are healthy. DNA of all five family members was analyzed using oligonucleotide\u2010based DNA microarray and quantitative PCR. The two affected brothers were found to have a small duplication of approximately 539\u2009kb at 10q24.32. The patients' sister and father do not have the microduplication, but qPCR showed that mother's DNA carries the duplication in 20% of blood lymphocytes. In this family, two children were affected with ectrodactyly having a duplication over the SHFM3 locus. The mother, who shows no clinical features of ectrodacytyly, is a mosaic for the same duplication. Therefore, we demonstrate that somatic\/gonadal mosaicism is a mechanism that gives rise to SHFM. We also suggest that ocular abnormalities may be part of the clinical description of SHFM3. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33942","type":"journal-article","created":{"date-parts":[[2011,4,11]],"date-time":"2011-04-11T15:04:35Z","timestamp":1302534275000},"page":"1152-1156","source":"Crossref","is-referenced-by-count":12,"title":["Somatic\/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array\u2010based comparative genomic hybridization"],"prefix":"10.1002","volume":"155","author":[{"given":"Aguinaldo Bonalumi","family":"Filho","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josiane","family":"Souza","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F\u00e1bio Rueda","family":"Faucz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanessa 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