{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T05:43:54Z","timestamp":1775195034805,"version":"3.50.1"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Res Notes"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Thrombocytopenia\u2013absent radius syndrome is a rare autosomal recessive disorder characterized by megakaryocytic thrombocytopenia and longitudinal limb deficiencies mostly affecting the radial ray. Most patients are compound heterozygotes for a 200 kb interstitial microdeletion in 1q21.1 and a hypomorphic allele in <jats:italic>RBM8A<\/jats:italic>, mapping in the deleted segment. At the moment, the complete molecular characterization of thrombocytopenia\u2013absent radius syndrome is limited to a handful of patients mostly ascertained in the pediatric age<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Case presentation<\/jats:title>\n            <jats:p>We report on a fetus with bilateral upper limb deficiency found at standard prenatal ultrasound examination. The fetus had bilateral radial agenesis and humeral hypo\/aplasia with intact thumbs, micrognathia and urinary anomalies, indicating thrombocytopenia\u2013absent radius syndrome. Molecular studies demonstrated compound heterozygosity for the 1q21.1 microdeletion and the <jats:italic>RBM8A<\/jats:italic> rs139428292 variant at the hemizygous state, inherited from the mother and father, respectively<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>The molecular information allowed prenatal diagnosis in the following pregnancy resulting in the birth of a healthy carrier female. A review was carried out with the attempt to the trace the fetal ultrasound presentation of thrombocytopenia\u2013absent radius syndrome and discussing opportunities for second-tier molecular studies within a multidisciplinary setting.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1756-0500-6-376","type":"journal-article","created":{"date-parts":[[2013,9,22]],"date-time":"2013-09-22T09:04:51Z","timestamp":1379840691000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report"],"prefix":"10.1186","volume":"6","author":[{"given":"Irene","family":"Bottillo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Castori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmelilia","family":"De Bernardo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Romano","family":"Fabbri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Grammatico","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicoletta","family":"Preziosi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna Sforzolini","family":"Scassellati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelina","family":"Silvestri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonella","family":"Spagnuolo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigi","family":"Laino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Grammatico","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,9,22]]},"reference":[{"key":"2399_CR1","first-page":"619","volume":"49","author":"ML Mart\u00ednez-Fr\u00edas","year":"1998","unstructured":"Mart\u00ednez-Fr\u00edas ML, Bermejo S\u00e1nchez E, Garc\u00eda Garc\u00eda A, P\u00e9rez Fern\u00e1ndez JL, Cucal\u00f3n Manzanos F, Calvo Aguilar MJ, Ripalda Crespo MJ: An epidemiological study of the thrombocytopenia with radial aplasia syndrome (TAR) in Spain. 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