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We report the two siblings of familial 1p36.3 microduplication, presenting with a severe global developmental delay, epilepsy, and a few dysmorphic features. They were referred to moderate-to-severe developmental delay (DD) and intellectual disability (ID). Both were considered eyelid myoclonus with absence of epilepsy (Jeavons syndrome). The EEG is characterized by widespread 2.5\u20133.5\u00a0Hz spikes and spike slow complex wave, eye closure sensitivity, and photosensitivity. The children has same dysmorphic features, including mild bitemporal narrowing and sloping forehead, sparse eyebrows, hypertelorism, ptosis, strabismus, infraorbital creases, wide nasal bridge with bulbous nasal tip, dystaxia, hallux valgus, and flat feet. Family exome sequencing revealed a maternally inherited 3.2-Mb microduplication of chromosomal band 1p36.3p36.2. However, DNA purified from blood samples of either parent did not find evidence for a microduplication of 1p36 in somatic tissue, indicating that such a mutation might be carried in the germline of the parents as gonadal mosaicism. No other family members of the affected siblings\u2019 parents were reported to be affected by the symptoms found.<\/jats:p>","DOI":"10.1007\/s10048-023-00722-y","type":"journal-article","created":{"date-parts":[[2023,6,8]],"date-time":"2023-06-08T08:01:41Z","timestamp":1686211301000},"page":"201-208","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["RETRACTED ARTICLE: Clinical characterization of familial 1p36.3 microduplication"],"prefix":"10.1007","volume":"24","author":[{"given":"Junping","family":"Jiao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuping","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yue","family":"Hou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao","family":"Gao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huimin","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-2195-5948","authenticated-orcid":false,"given":"Shujuan","family":"Tian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,6,8]]},"reference":[{"issue":"2","key":"722_CR1","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1034\/j.1399-0004.1999.560205.x","volume":"56","author":"HA Heilstedt","year":"1999","unstructured":"Heilstedt HA, Shapira SK, Gregg AR, Shaffer LG (1999) Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis. 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Please see the Retraction Notice for more detail:","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"https:\/\/doi.org\/10.1007\/s10048-023-00735-7","URL":"https:\/\/doi.org\/10.1007\/s10048-023-00735-7","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the Institutional Review Board of the First Hospital of Hebei Medical University.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"We obtained verbal and written informed consent for the use of patient data. Images work for the publication of the cases for purely educational and research purposes, to which the patients and families agreed.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}