{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T04:34:54Z","timestamp":1760243694492,"version":"build-2065373602"},"reference-count":29,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2022,9,24]],"date-time":"2022-09-24T00:00:00Z","timestamp":1663977600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Small supernumerary marker chromosomes (sSMCs) derived from the chromosome 6 short arm are rare and their clinical significance remains unknown. No case with sSMC(6) without centromeric DNA has been reported. Partial trisomy and tetrasomy of distal 6p is a rare but clinically distinct syndrome. We report on a de novo mosaic sSMC causing partial tetrasomy for 6p23-p25.3 in a male infant with symptoms of being small for gestational age, microcephaly, facial dysmorphism, congenital eye defects, and multi-system malformation. Conventional cytogenetic analysis revealed a karyotype of 47,XY,+mar [25]\/46,XY [22]. Array comparative genomic hybridization (aCGH) revealed mosaic tetrasomy of distal 6p. This is the first case of mosaic tetrasomy 6p23-p25.3 caused by an inverted duplicated neocentric sSMC with characteristic features of trisomy distal 6p. Comparison of phenotypes in cases with trisomy and tetrasomy of 6p23-p25.3 could facilitate a genotype\u2013phenotype correlation and identification of candidate genes contributing to their presentation. The presentation of anterior segment dysgenesis and anomaly of the renal system suggest triplosensitivity of the FOXC1 gene. In patients with microcephaly growth retardation, and malformation of the cardiac and renal systems, presentation of anterior segment dysgenesis might be indicative of chromosome 6p duplication, and aCGH evaluation should be performed for associated syndromic disease.<\/jats:p>","DOI":"10.3390\/diagnostics12102306","type":"journal-article","created":{"date-parts":[[2022,9,25]],"date-time":"2022-09-25T21:14:28Z","timestamp":1664140468000},"page":"2306","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7530-5499","authenticated-orcid":false,"given":"Yu-Min","family":"Syu","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Far Eastern Memorial Hospital, New Taipei City 22021, Taiwan"},{"name":"Division of Genetics and Metabolism, Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juine-Yih","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Far Eastern Memorial Hospital, New Taipei City 22021, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tzu-Hsuen","family":"Ou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Far Eastern Memorial Hospital, New Taipei City 22021, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8178-6938","authenticated-orcid":false,"given":"Chung-Lin","family":"Lee","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9619-0990","authenticated-orcid":false,"given":"Hsiang-Yu","family":"Lin","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Medical Research, Division of Genetics and Metabolism, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Childhood Care and Education, MacKay Junior College of Medicine, Nursing and Management, Taipei 11260, Taiwan"},{"name":"Department of Medicine, MacKay Medical College, New Taipei City 25245, Taiwan"},{"name":"Department of Medical Research, China Medical University Hospital, China Medical University, Taichung 40402, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuan-Pei","family":"Lin","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Medical Research, Division of Genetics and Metabolism, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Medicine, MacKay Medical College, New Taipei City 25245, Taiwan"},{"name":"Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei 11219, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chia-Jung","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Far Eastern Memorial Hospital, New Taipei City 22021, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chih-Ping","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung 40402, Taiwan"},{"name":"Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei 11230, Taiwan"},{"name":"Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei 11230, Taiwan"},{"name":"Department of Medical Laboratory Science and Biotechnology, Asia University, Taichung 41346, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"140","DOI":"10.4103\/2277-9175.161542","article-title":"Small supernumerary marker chromosomes and their correlation with specific syndromes","volume":"4","author":"Liehr","year":"2015","journal-title":"Adv. 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