{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T10:40:16Z","timestamp":1700044816484},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2007,1,31]],"date-time":"2007-01-31T00:00:00Z","timestamp":1170201600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2007,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a semilobar holoprosencephaly (HPE) in a post\u2010intracytoplasmic\u2010sperm\u2010injection pregnancy. It was suggested by ultrasonography (US), documented on karyotype, identified with magnetic resonance imaging (MRI), established after birth and confirmed on post\u2010mortem autopsy. An amniocentesis revealed a <jats:italic>de novo<\/jats:italic> apparently balanced reciprocal translocation 46,XY, t(7;8) (q31.3;q12). Fluorescence <jats:italic>in situ<\/jats:italic> hybridization (FISH) identified a deletion in the region of the <jats:italic>Sonic Hedgehog<\/jats:italic> gene <jats:italic>(SHH)<\/jats:italic> on der(8); nevertheless, the subtelomeric regions for chromosomes 7 and 8 were present. The parents decided to continue the pregnancy; a boy was born and survived for 3 days. The brain autopsy confirmed the semilobar HPE previously noted on US and MRI. Further, band\u2010specific FISH revealed, in addition to <jats:italic>SHH<\/jats:italic> deletion, the presence of an inversion in the 7q translocated material on der(8). The parents' karyotypes were normal. An unexpected complex rearrangement was present in a <jats:italic>de novo<\/jats:italic> apparently balanced reciprocal translocation in a semilobar HPE. Copyright \u00a9 2007 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.1639","type":"journal-article","created":{"date-parts":[[2007,2,3]],"date-time":"2007-02-03T05:51:31Z","timestamp":1170481891000},"page":"279-284","source":"Crossref","is-referenced-by-count":4,"title":["Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a <i>de novo<\/i> apparently balanced reciprocal translocation on karyotype"],"prefix":"10.1002","volume":"27","author":[{"given":"S.","family":"Kanafani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Aboura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Pipiras","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Carbillon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. 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