{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T11:47:40Z","timestamp":1787312860883,"version":"build-2736575974"},"reference-count":17,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2015,12,24]],"date-time":"2015-12-24T00:00:00Z","timestamp":1450915200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Microarrays"],"abstract":"<jats:p>Split hand\/foot malformation (SHFM) is a limb malformation with underdeveloped or absent central digital rays, clefts of hands and feet, and variable syndactyly of the remaining digits. There are six types of SHFM. Here, we report a boy with SHFM type 3 having normal 4th and 5th digits, absent 2nd and 3rd digits, and a 4th finger flexion deformity, as well as absent 2nd, 3rd and 4th toes bilaterally. His father, two paternal uncles, and two paternal first cousins have similar phenotype. Chromosome analysis showed a normal male karyotype. A 514 kb gain at 10q24.31\u2013q24.32 (chr10:102,962,134\u2013103,476,346, hg19) was identified using 6.0 Single nucleotide polymorphism (SNP) microarray, resulting in the duplication of nine genes, including BTRC and FBXW4. A detailed systematic review of literature and mapping of breakpoints using microarray data from all reported cases in PubMed and DECIPHER were conducted, and exon 1 of BTRC gene was identified as the critical region responsible for the SHFM3 phenotype. The potential mechanism and future studies of this critical region causing the SHFM3 phenotype are discussed.<\/jats:p>","DOI":"10.3390\/microarrays5010002","type":"journal-article","created":{"date-parts":[[2015,12,24]],"date-time":"2015-12-24T06:19:50Z","timestamp":1450937990000},"page":"2","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Identification of Critical Region Responsible for Split Hand\/Foot Malformation Type 3 (SHFM3) Phenotype through Systematic Review of Literature and Mapping of Breakpoints Using Microarray Data"],"prefix":"10.3390","volume":"5","author":[{"given":"Catherine","family":"Li","sequence":"first","affiliation":[{"name":"Center for Human Genetics, Cambridge, MA 02139, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie","family":"Angione","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, Cambridge, MA 02139, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeff","family":"Milunsky","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, Cambridge, MA 02139, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2015,12,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1959","DOI":"10.1093\/hmg\/ddg212","article-title":"A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24","volume":"12","author":"Gurrieri","year":"2003","journal-title":"Hum. 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USA"}],"container-title":["Microarrays"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2076-3905\/5\/1\/2\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T20:54:43Z","timestamp":1760216083000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2076-3905\/5\/1\/2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,12,24]]},"references-count":17,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2016,3]]}},"alternative-id":["microarrays5010002"],"URL":"https:\/\/doi.org\/10.3390\/microarrays5010002","relation":{},"ISSN":["2076-3905"],"issn-type":[{"value":"2076-3905","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,12,24]]}}}