{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T00:41:21Z","timestamp":1775090481223,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2021,10,8]],"date-time":"2021-10-08T00:00:00Z","timestamp":1633651200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Unbalanced translocations between the q arm of chromosomes 5 and 13 are exceedingly rare and there is only one reported case with distal trisomy 5q\/monosomy 13q. In this report, we describe a second patient with a similar rearrangement arising from a paternal balanced translocation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Karyotype analysis was performed on the proband and their parents. Microarray was also conducted on the proband.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Our patient was found to have global developmental delay, distinct facial features, short stature, growth hormone deficiency, delayed puberty, and brain anomalies including a small pituitary. Karyotype and microarray analysis revealed a terminal duplication of chromosome regions 5q33.3 to 5qter and a terminal deletion of chromosome regions 13q34 to 13qter that resulted from a balanced translocation in her father. The endocrine abnormalities and neuroimaging findings have not been previously described in patients with either copy number change.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This case helps expand on the phenotype of patients with distal trisomy 5q\/monosomy 13q as well as possibly providing useful information on the more common individual copy number changes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1821","type":"journal-article","created":{"date-parts":[[2021,10,10]],"date-time":"2021-10-10T08:46:15Z","timestamp":1633855575000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A rare unbalanced translocation (trisomy 5q33.3\u2010qter, monosomy 13q34\u2010qter) results in growth hormone deficiency and brain anomalies"],"prefix":"10.1002","volume":"9","author":[{"given":"Alyssa C. M.","family":"Joynt","sequence":"first","affiliation":[{"name":"Division of Clinical and Metabolic Genetics Department of Paediatrics, The Hospital for Sick Children and University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9239-3846","authenticated-orcid":false,"given":"Ashish R.","family":"Deshwar","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics Department of Paediatrics, The Hospital for Sick Children and University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica","family":"Zon","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics Department of Paediatrics, The Hospital for Sick Children and University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucie","family":"Dupuis","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics Department of Paediatrics, The Hospital for Sick Children and University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diane K.","family":"Wherrett","sequence":"additional","affiliation":[{"name":"Division of Endocrinology Department of Pediatrics The Hospital for Sick Children and University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3542-8106","authenticated-orcid":false,"given":"Roberto","family":"Mendoza\u2010Londono","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics Department of Paediatrics, The Hospital for Sick Children and University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,10,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.043059"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2017.34"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450115"},{"key":"e_1_2_9_5_1","first-page":"859","article-title":"The 13q\u2010 syndrome: The molecular definition of a critical deletion region in band 13q32","volume":"57","author":"Brown S.","year":"1995","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31329"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1028-4559(10)60116-7"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2001-0030"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.20945\/2359-3997000000139"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb01779.x"},{"key":"e_1_2_9_11_1","unstructured":"deGraaff L. 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