{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T07:08:29Z","timestamp":1789974509220,"version":"4.0.1"},"reference-count":20,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,8,5]],"date-time":"2013-08-05T00:00:00Z","timestamp":1375660800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>We report on a 3\u2010year\u2010old girl with a de novo complex X chromosome rearrangement associated with congenital pulmonary alveolar proteinosis (PAP) and short stature. Array comparative genome hybridization and FISH analyses contributed to characterize the complex rearrangement consisting of a 7.37\u2009Mb terminal deletion of Xp22.33p22.2, a 17.3\u2009Mb interstitial inverted duplication of Xp22.2p21.3, and a 10.14\u2009Mb duplication of Xq27.3q28. PCR analysis of microsatellite markers supported a paternal origin of the X chromosome rearrangement. A pre\u2010meiotic two\u2010step mechanism may explain the occurrence of this complex X rearrangement: an inverted duplication deletion event on Xp, and duplication of the Xq27.3qter region through a telomere capture event stabilizing the broken chromosome Xp end. The girl has also inherited from her healthy mother an X chromosome with a colony stimulating factor 2 receptor, alpha (<jats:italic>CSF2RA<\/jats:italic>) gene deletion. Consistent with the recessive mode of inheritance, the de novo paternal Xp22.33p22.2 deletion combined to the maternally inherited <jats:italic>CSF2RA<\/jats:italic> gene deletion led to homozygous deletion of <jats:italic>CSF2RA<\/jats:italic> and PAP diagnosis in the girl. The Xp deletion encompasses the pseudoautosomal region 1 (PAR1) which contains genes that escape X inactivation. Short stature homeobox (<jats:italic>SHOX<\/jats:italic>) haploinsufficiency explains growth retardation. Absence of other symptoms in relation to the X deletion\/amplification is most probably due to skewed X inactivation. Finally, inherited deletions may unmask rare pathogenic genomic rearrangement and contribute to clinical phenotypes by a recessive mode of gene action. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36097","type":"journal-article","created":{"date-parts":[[2013,8,5]],"date-time":"2013-08-05T19:57:23Z","timestamp":1375732643000},"page":"2594-2599","source":"Crossref","is-referenced-by-count":15,"title":["De novo complex X chromosome rearrangement unmasking maternally inherited <i>CSF2RA<\/i> deletion in a girl with pulmonary alveolar proteinosis"],"prefix":"10.1002","volume":"161","author":[{"given":"Julie","family":"Auger","sequence":"first","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale Centre Hospitalier Universitaire de Nancy Vandoeuvre\u2010les\u2010Nancy France"},{"name":"Service de M\u00e9decine Infantile 3 et G\u00e9n\u00e9tique Clinique Centre Hospitalier Universitaire de Nancy Vandoeuvre\u2010les\u2010Nancy 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France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Schweitzer","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Infantile 1 Centre Hospitalier Universitaire de Nancy Vandoeuvre\u2010les\u2010Nancy France"},{"name":"EA 3450 Universit\u00e9 de Lorraine, Rue du Morvan Vandoeuvre\u2010les\u2010Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Leheup","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Infantile 3 et G\u00e9n\u00e9tique Clinique Centre Hospitalier Universitaire de Nancy Vandoeuvre\u2010les\u2010Nancy France"},{"name":"INSERM U\u2010954 Universit\u00e9 de Lorraine, Rue du Morvan Vandoeuvre\u2010les\u2010Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Jonveaux","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale Centre Hospitalier Universitaire de Nancy 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