{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T17:36:17Z","timestamp":1791999377147,"version":"4.4.0"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,9,26]],"date-time":"2018-09-26T00:00:00Z","timestamp":1537920000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Trisomy 22 mosaicism is a rare autosomal anomaly with survival compatibility. Recognition of the complete trisomy 22 which is incompatible with life from the mosaic form is critical for genetic counseling. Affected mosaic cases have prevalent clinical presentations such as webbed neck, developmental delay, abnormal ears, cardiac disorders, and microcephaly. Phenotype of these patients is milder than full chromosomal aneuploidy, and the severity of the phenotype depends on the count of trisomic cells. We describe a 4\u2010year\u2010old boy with mosaic trisomy 22 from healthy parents and no family history of any genetic disorders in the pedigree.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method and Results<\/jats:title><jats:p>The patient had determined dysmorphic clinical features including facial asymmetry, cleft palate, gastroenteritis, hydronephrosis, developmental delay, genital anomalies, dysplastic toenails, flattened nasal bridge, congenital heart defect, hearing loss, cryptorchidism, and hypotonic muscle. He is the first reported with hypothyroidism and larynx wall thickness in worldwide and the first with atrial septal defect (<jats:styled-content style=\"fixed-case\">ASD<\/jats:styled-content>) from Iran. Chromosomal analyses using G\u2010banding indicated a de novo Mos 47,<jats:styled-content style=\"fixed-case\">XY<\/jats:styled-content>,+22(6)\/46,<jats:styled-content style=\"fixed-case\">XY<\/jats:styled-content>(44) karyotype with no other chromosomal structural changes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our observations confirm the importance of cytogenetic analyses for determining the cause of congenital anomalies and provide a useful genetic counseling. In addition, due to the fact that some of mosaic trisomy 22 features are unavoidable such as<jats:styled-content style=\"fixed-case\">CHD<\/jats:styled-content>and general hypotrophy, we suggest including echocardiography test for early diagnosis during the clinical assessment.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.22663","type":"journal-article","created":{"date-parts":[[2018,9,27]],"date-time":"2018-09-27T06:44:40Z","timestamp":1538030680000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Mosaic trisomy 22 in a 4\u2010year\u2010old boy with congenital heart disease and general hypotrophy: A case report"],"prefix":"10.1002","volume":"33","author":[{"given":"Samira","family":"Kalayinia","sequence":"first","affiliation":[{"name":"Department of Genetics and Molecular Medicine School of Medicine Zanjan University of Medical Sciences (ZUMS) Zanjan Iran"},{"name":"Rajaie Cardiovascular Medical and Research Center 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Nanotechnology School of Medicine Zanjan University of Medical Sciences (ZUMS) Zanjan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahra","family":"Razavi","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinologist Pediatrics Department Faculty of Medicine Hamadan University of Medical Sciences Hamadan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8614-1538","authenticated-orcid":false,"given":"Nejat","family":"Mahdieh","sequence":"additional","affiliation":[{"name":"Rajaie Cardiovascular Medical and Research Center Iran University of Medical Sciences Tehran 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