{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T09:04:22Z","timestamp":1790067862202,"version":"4.0.1"},"reference-count":25,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T00:00:00Z","timestamp":1789430400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Mosaic trisomy 14 is a rare chromosomal anomaly with a broad phenotypic spectrum. We report a 10-year-3-month-old girl with severe short stature, developmental delay, and repaired patent ductus arteriosus. An incompletely documented combined insulin\u2013clonidine stimulation test yielded a peak GH concentration of 6.85 ng\/mL and was not considered sufficient to establish growth hormone deficiency. Karyotyping of 100 peripheral-blood metaphases showed 47,XX,+14[6]\/46,XX[94]. Initial copy-number sequencing detected a 34.37 Mb mosaic 14q gain; repeat SNP-based chromosomal microarray analysis demonstrated an approximately 86.83 Mb 14q11.2-q32.33 mosaic gain at an array-estimated fraction of approximately 50%, compatible with the cytogenetic diagnosis. Targeted 14q32.2 analysis showed increased total and methylated-allele dosage, with methylated fractions of 48.6\u201362.3%, interpreted as dosage imbalance within the broader 14q gain rather than an independent epimutation. Four STR loci showed biparental inheritance. Quantitative peak-height and peak-area analysis at three informative, bias-correctable STR loci demonstrated excess paternal-allele dosage, providing independent support for, but not definitive proof of, paternal origin of the additional chromosome 14. rhGH was prescribed for SGA with persistent short stature at 0.22 mg\/kg\/week. At three months, height was 124.7 cm (+1.9 cm); no adverse events were reported. These observations do not establish treatment efficacy or safety.<\/jats:p>","DOI":"10.3390\/genes17091123","type":"journal-article","created":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T18:23:53Z","timestamp":1789496633000},"page":"1123","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Mosaic Trisomy 14 with Severe Short Stature: A Case Report"],"prefix":"10.3390","volume":"17","author":[{"given":"Chunyan","family":"Yin","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Hubei Provincial Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Hubei Provincial Clinical Research Center for Children\u2019s Growth and Development and Metabolic Diseases, State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Disease, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China"},{"name":"Department of Pediatrics, Second Affiliated Hospital of Xi\u2019an Jiaotong University, Xi\u2019an 710049, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Ye","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hubei Provincial Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Hubei Provincial Clinical Research Center for Children\u2019s Growth and Development and Metabolic Diseases, State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Disease, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Hou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hubei Provincial Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Hubei Provincial Clinical Research Center for Children\u2019s Growth and Development and Metabolic Diseases, State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Disease, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3748-4817","authenticated-orcid":false,"given":"Xiaoping","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hubei Provincial Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Hubei Provincial Clinical Research Center for Children\u2019s Growth and Development and Metabolic Diseases, State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Disease, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,9,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e01296","DOI":"10.14309\/crj.0000000000001296","article-title":"Intussusception in Mosaic Trisomy 14","volume":"11","author":"Skvarce","year":"2024","journal-title":"ACG Case Rep. 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