{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:05:20Z","timestamp":1761717920442},"reference-count":35,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,2,12]],"date-time":"2004-02-12T00:00:00Z","timestamp":1076544000000},"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":[[2004,2,28]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To present the prenatal diagnosis of <jats:italic>de novo<\/jats:italic> distal 11q deletions and a review of the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Clinical Subjects and Methods<\/jats:title><jats:p>A 31\u2010year\u2010old primigravid woman underwent amniocentesis at 20 weeks' gestation because of a maternal serum alpha\u2010fetoprotein (MSAFP) level of 2.63 multiples of the median. Amniocentesis demonstrated a karyotype of 46,XY,del(11)(q24.2). The parental karyotypes were normal. Level II ultrasound revealed short femurs and humeri, and overlapping of the toes. Postnatally, the proband manifested additional findings of the characteristic facial dysmorphism and camptodactyly. A 38\u2010year\u2010old gravida 2, para 1, woman underwent amniocentesis at 18 weeks' gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XX,del(11)(q24.1). The parental karyotypes were normal. Level II ultrasound did not show fetal structural abnormalities. Postnatally, the proband manifested characteristic facial dysmorphism and camptodactyly.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of these two cases, genetic marker analysis determined the paternally derived distal deletions of chromosome 11q and the deletion breakpoints. A comparison of the present cases with the reported cases of prenatally diagnosed distal 11q deletion is made.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The distal 11q deletion can be identified prenatally because of parental balanced translocations involving chromosome 11, previous\u2010term infants with an unbalanced rearrangement, advanced parental age, sonographically detected fetal abnormalities and abnormal maternal serum screening. Fetuses with <jats:italic>de novo<\/jats:italic> distal 11q deletions may be associated with elevated MSAFP and abnormal sonographic findings of the digits and limbs in the second trimester. Copyright \u00a9 2004 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.802","type":"journal-article","created":{"date-parts":[[2004,2,16]],"date-time":"2004-02-16T08:03:11Z","timestamp":1076918591000},"page":"130-136","source":"Crossref","is-referenced-by-count":17,"title":["Prenatal diagnosis of the distal 11q deletion and review of the 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