{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T19:34:47Z","timestamp":1793907287310,"version":"4.8.0"},"reference-count":5,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,6,11]],"date-time":"2022-06-11T00:00:00Z","timestamp":1654905600000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Noonan syndrome (NS) is caused by pathogenic variants in genes involved in the RAS\/MAPK pathway. On the other hand, 22q11.2 Deletion Syndrome (22q11.2DS) is caused by heterozygous microdeletion on chromosome 22q11.2. The clinical characteristics of both syndromes are expected to be relatively distinct, and, in fact, there is only one report of these syndromes occurring together, but on daily clinical practice and especially in early childhood phenotypes may overlap. In this study, we describe a patient with NS and 22q11.2DS features harboring a heterozygous 2.54\u2009Mb deletion of chromosome 22q11.2 and a variant in <jats:italic>LZTR1<\/jats:italic>, c.1531G\u2009&gt;\u2009A p.(Val511Met). In 1993, Wilson et al reported a patient with both 22q11.2DS and NS, proposing that probably more than one gene is deleted in the proband and that one of the deleted genes is responsible for Noonan's phenotype. In our patient, one of the deleted genes within the 22q11.2 region was the <jats:italic>LZTR1<\/jats:italic> gene which was associated with NS in 2015. This case also highlights the importance of the long\u2010term patients' follow\u2010up to detect evolutionary changes that may appear in the phenotype and alerts clinicians of the co\u2010occurrence of two syndromes that may manifest over time.<\/jats:p>","DOI":"10.1002\/ajmg.a.62862","type":"journal-article","created":{"date-parts":[[2022,6,11]],"date-time":"2022-06-11T11:08:28Z","timestamp":1654945708000},"page":"2505-2508","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Challenges in genetic diagnosis, co\u2010occurrence of 22q11.2 deletion syndrome and Noonan syndrome"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2031-9305","authenticated-orcid":false,"given":"Josefina","family":"Chinton","sequence":"first","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Servicio de Gen\u00e9tica Hospital de Pediatr\u00eda Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6411-1955","authenticated-orcid":false,"given":"Victoria","family":"Huckstadt","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica Hospital de Pediatr\u00eda Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1054-7715","authenticated-orcid":false,"given":"Maria Eugenia","family":"Foncuberta","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Servicio de Gen\u00e9tica Hospital de Pediatr\u00eda Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Mercedes","family":"Perez","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Servicio de Gen\u00e9tica Hospital de Pediatr\u00eda Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mara Cecilia","family":"Bonetto","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Servicio de Gen\u00e9tica Hospital de Pediatr\u00eda Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1692-9936","authenticated-orcid":false,"given":"Luis Pablo","family":"Gravina","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Servicio de Gen\u00e9tica Hospital de Pediatr\u00eda Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7129-8009","authenticated-orcid":false,"given":"Mar\u00eda Gabriela","family":"Obregon","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica Hospital de Pediatr\u00eda Garrahan  Buenos Aires 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