{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T19:10:33Z","timestamp":1700248233975},"reference-count":29,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2003,11,4]],"date-time":"2003-11-04T00:00:00Z","timestamp":1067904000000},"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":[[2003,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 40\u2010year\u2010old woman underwent amniocentesis at 15.3 weeks of gestation. Chromosome analysis performed using QFQ, DA\u2010DAPI and CBG banding revealed two <jats:italic>de novo<\/jats:italic> extra\u2010chromosomal markers (ESACs) in 11 of the 16 colonies analysed.<\/jats:p><jats:p>Fluorescence <jats:italic>in situ<\/jats:italic> hybridization (FISH) showed that both chromosomes came from the Yq11.22.1 region of the Y chromosome. PCR analysis of genes and STS localized on the Y chromosome excluded the Yp presence specifically of the SRY gene, and most of the euchromatic region of Yq.<\/jats:p><jats:p>After extensive genetic counselling and considering both laboratory and second\u2010level ultrasound data, the couple decided to continue the pregnancy. At 37.4 weeks of gestational age, a girl weighing 2750 g was born with an Apgar score of 9\/10.<\/jats:p><jats:p>A blood sample taken from the umbilical cord showed three cellular lines:mos47,XX, +mar1 ish.der (Y)(wcpY+) [21%]\/48,XX, +mar1 ish.der (Y)(wcpY+), +mar2 ish.der (Y)(wcpY+) [41%]\/46,XX [38%].<\/jats:p><jats:p>One year after birth, the baby was developing normally and had normal psychomotorial activity. Copyright \u00a9 2003 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.734","type":"journal-article","created":{"date-parts":[[2003,12,4]],"date-time":"2003-12-04T08:00:38Z","timestamp":1070524838000},"page":"959-963","source":"Crossref","is-referenced-by-count":1,"title":["Molecular and cytogenetic characterization of extra\u2010structurally abnormal chromosomes (ESACs) found prenatally: outcome and follow\u2010up"],"prefix":"10.1002","volume":"23","author":[{"given":"E.","family":"Marchina","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Piovani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Vezzola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Bellotti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Cerri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Groli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Barlati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,11,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10701"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970141103"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","unstructured":"Br\u00f8ndum\u2010NielsenK MikkelsenM.1995.A 10\u2010year survey 1980\u20131990 of prenatally diagnosed small supernumerary marker chromosomes identified by FISH analysis. 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