{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T05:47:13Z","timestamp":1792043233403,"version":"4.4.0"},"reference-count":16,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2021,6,4]],"date-time":"2021-06-04T00:00:00Z","timestamp":1622764800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81601664"],"award-info":[{"award-number":["81601664"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The main symptoms of congenital chloride diarrhea (CCD) main symptoms are watery diarrhea, hypochloremia, and hypokalemic metabolic alkalosis. Silver\u2013Russell syndrome (SRS) is a heterogeneous imprinting disorder characterized by severe intrauterine retardation, poor postnatal growth, and facial dysmorphism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Parent\u2010offspring trio whole\u2010exome sequencing was used to identify the causal variants. Sequencing reads were mapped to the reference of human genome version hg19. Sanger sequencing was performed as a confirmatory experiment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The proband was a patient with SRS caused by maternal uniparental disomy 7. The CCD of the proband was caused by homozygous variant c.1515\u20131 (IVS13) G&gt;A; both mutated alleles were inherited from her mother.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We report the first clinical case of CCD and SRS occurring together. Patients with milder phenotypes may be difficult to diagnose in early stage, but close monitoring of potential complications is important for identification.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.23862","type":"journal-article","created":{"date-parts":[[2021,6,4]],"date-time":"2021-06-04T15:06:11Z","timestamp":1622819171000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Segmental maternal uniparental disomy of chromosome 7q in a patient with congenital chloride diarrhea"],"prefix":"10.1002","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8855-0669","authenticated-orcid":false,"given":"Juanjuan","family":"Lyu","sequence":"first","affiliation":[{"name":"Department of Pediatrics West China Second University Hospital Sichuan University Chengdu China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children Ministry of Education West China Second University Hospital Sichuan University Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuo","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics West China Second University Hospital Sichuan University Chengdu China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children Ministry of Education West China Second University Hospital Sichuan University Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongbo","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics West China Second University Hospital Sichuan University Chengdu China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children Ministry of Education West China Second University Hospital Sichuan University Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaomei","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Pediatrics West China Second University Hospital Sichuan University Chengdu China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children Ministry of Education West China Second University Hospital Sichuan University Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics West China Second University Hospital Sichuan University Chengdu China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children Ministry of Education West China Second University Hospital Sichuan University Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuanjie","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics West 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Second University Hospital Sichuan University Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics West China Second University Hospital Sichuan University Chengdu China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children Ministry of Education West China Second University Hospital Sichuan University Chengdu 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