{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T06:10:37Z","timestamp":1696572637003},"reference-count":31,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2014,3,26]],"date-time":"2014-03-26T00:00:00Z","timestamp":1395792000000},"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":[[2014,7]]},"abstract":"<jats:sec><jats:label \/><jats:p>Partial trisomy 11q is a rare syndrome and may be observed due to an intra\u2010chromosomal duplication or an inter\u2010chromosomal insertion. The deletions of the short arm of chromosome 12 are also uncommon structural aberrations. Only a small fraction of structural chromosome anomalies are related to the unbalanced progeny of balanced translocation carrier parents. We here report on a 10\u2010month\u2010old baby boy who shows a very mild phenotype related to unique chromosomal abnormality, partial trisomy of 11q, and partial monosomy of 12p, due to the maternal balanced reciprocal translocation (11;12). The proband showed a 49.64\u2009Mb duplication of 11q14.1\u2013q25 and 0.44\u2009Mb deletion of 12p13.33 in chromosomal array analysis. Since it is known that the duplications may cause a milder phenotype than deletions. Dysmorphic facial features, minor cardiac anomalies, respiratory distress, central nervous system anomalies, and psychomotor delay observed in the patient was similar to the reported pure 11q duplication cases, while behavioral problems observed in pure monosomy 12p cases could not be evaluated due to the young age of the patient. Phenotype\u2013genotype correlation will be discussed in view of all the reported pure partial 11q trisomies and pure partial 12p deletion cases. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36495","type":"journal-article","created":{"date-parts":[[2014,3,26]],"date-time":"2014-03-26T17:24:46Z","timestamp":1395854686000},"page":"1770-1776","source":"Crossref","is-referenced-by-count":1,"title":["Chromosomal\u2010array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case"],"prefix":"10.1002","volume":"164","author":[{"given":"Esra","family":"Tu\u011f","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Faculty of Medicine Gazi University Besevler Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meral","family":"Yirmibe\u015f Karao\u011fuz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Faculty of Medicine Gazi University Besevler 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