{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T05:51:42Z","timestamp":1759729902540},"reference-count":22,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2005,11,21]],"date-time":"2005-11-21T00:00:00Z","timestamp":1132531200000},"content-version":"vor","delay-in-days":4738,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1992,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a case of Pallister\u2010Killian syndrome initially diagnosed prenatally as tetrasomy 21. A 33\u2010year\u2010old primiparous woman was noted at 24 weeks' gestation to have moderate polyhydramnios. Ultrasonography showed diminished fetal stomach filling, hydronephrosis, and prominence of the cisterna magna. Cytogenetic analysis of cultured amniocytes was initially interpreted as mosaic tetrasomy 21: 46,XX\/47,XX,+i(21q). The patient was then referred to our centre for genetic counselling. At 34 weeks' gestation, a dysmorphic infant was delivered and died within 30 min. Physical features were consistent with the Pallister\u2010Killian syndrome. Renal, gastrointestinal, and central nervous system anomalies were found at post\u2010mortem examination. Analysis of peripheral lymphocytes revealed 5 per cent of cells with a marker chromosome, while 92 per cent of cultured fibroblasts had this same marker. Fluorescent <jats:italic>in situ<\/jats:italic> hybridization (FISH) using an alpha\u2010satellite probe for chromosomes 13 and 21 failed to hybridize to the marker, while a chromosome 12 centromeric probe unequivocally identified it as an i(12p). Use of FISH can provide rapid, specific prenatal diagnosis of ambiguous marker chromosomes and improve prenatal counselling.<\/jats:p>","DOI":"10.1002\/pd.1970121203","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T05:59:41Z","timestamp":1172987981000},"page":"985-991","source":"Crossref","is-referenced-by-count":21,"title":["Prenatal diagnosis of Pallister\u2013Killian syndrome: Resolution of cytogenetic ambiguity by use of fluorescent <i>in situ<\/i> hybridization"],"prefix":"10.1002","volume":"12","author":[{"given":"S.","family":"McLean","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"Stanley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Stern","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Fonda\u2010Allen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Devine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Ellingham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Rosenbaum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,21]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"257","article-title":"Varying levels of mosaicism in tissues of a prenatally diagnosed case of tetrasomy 12p","volume":"49","author":"Blancato J.","year":"1991","journal-title":"Am. 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