{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T12:39:14Z","timestamp":1780749554744,"version":"3.54.1"},"reference-count":30,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2005,8,8]],"date-time":"2005-08-08T00:00:00Z","timestamp":1123459200000},"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":[[2005,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To present the clinical, cytogenetic, and molecular cytogenetic findings of prenatally diagnosed interstitial deletion 10q25.2\u2010q26.1. The majority of distal 10q deletions are pure terminal deletions with breakpoints in 10q25 and 10q26. Only four patients have been described so far with interstitial deletions involving bands 10q25.2\u2010q26.1.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Postmortem physical examination and autopsy of the foetus after medically terminated pregnancy. GTG\u2010banding, reverse painting, and FISH analysis with BAC clones on amniocyte metaphases were performed to determine the extent of the deletion.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>At 20 weeks the eutrophic female foetus showed pronounced microretrogeny and hypertelorism, clubfeet as well as minor internal anomalies like pancreas anulare, atypically lobed liver, and missing choleocystis. Cardiac anomalies were not observed and the genitalia were of a normal female. The deletion encompasses 6\u2010Mb and is associated with hemizygosity for 30 genes, including the genes for beta\u2010tectorin, the beta\u20101 adrenergic receptor, and the alpha\u20102A adrenergic receptor.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>An interstitial deletion del(10)(q25.2q25.3 \u223c 26.11) was confirmed by FISH with mapped BAC clones. Clinical and molecular cytogenetic analyses of further interstitial 10q deletions are necessary to assess whether the phenotypic manifestations differ between deletions that are interstitial compared to those that include also the terminal region of chromosome 10. Copyright \u00a9 2005 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.1252","type":"journal-article","created":{"date-parts":[[2005,8,8]],"date-time":"2005-08-08T12:46:53Z","timestamp":1123505213000},"page":"954-959","source":"Crossref","is-referenced-by-count":14,"title":["Interstitial deletion del(10)(q25.2q25.3 \u223c 26.11)\u2014case report and review of the literature"],"prefix":"10.1002","volume":"25","author":[{"given":"Hildegard","family":"Kehrer\u2010Sawatzki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Daumiller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jutta","family":"M\u00fcller\u2010Navia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidemarie","family":"Kendziorra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Rossier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"du Bois","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gotthold","family":"Barbi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,8,8]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199801)18:1<73::AID-PD215>3.0.CO;2-8"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330418"},{"key":"e_1_2_1_4_1","first-page":"124","article-title":"Severe midline fusion defects in a newborn with 10q26\u2014qter deletion","volume":"32","author":"Fryns JP","year":"1989","journal-title":"Ann Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20220"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.1990.tb00788.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990910)86:2<115::AID-AJMG5>3.0.CO;2-Y"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291317"},{"key":"e_1_2_1_9_1","first-page":"119","article-title":"Pure distal monosomy 10q26 in a patient displaying clinical features of Prader\u2010Willi syndrome during infancy and distinct behavioural phenotype in adolescence","volume":"11","author":"Lukusa T","year":"2000","journal-title":"Genet Couns"},{"key":"e_1_2_1_10_1","first-page":"417","article-title":"Small terminal 10q26 deletion in a male patient with Noonan\u2010like stigmata: diagnosis by cytogenetic and FISH analysis","volume":"13","author":"Lukusa T","year":"2002","journal-title":"Genet Couns"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001113)95:2<93::AID-AJMG1>3.0.CO;2-B"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.3.185"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb02076.x"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1080\/003655999750016357"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<60::AID-AJMG13>3.0.CO;2-M"},{"key":"e_1_2_1_16_1","first-page":"271","article-title":"Terminal deletion of chromosome 10q26: delineation of two clinical phenotypes","volume":"9","author":"Petit P","year":"1998","journal-title":"Genet Couns"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2000.00412.x"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.1.58"},{"key":"e_1_2_1_19_1","first-page":"259","article-title":"The partial monosomy 10q syndrome: report on two patients and review of the developmental data","volume":"35","author":"Schrander\u2010Stumpel C","year":"1991","journal-title":"J Ment Defic Res"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00218.x"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200122"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1442-200x.1999.01105.x"},{"key":"e_1_2_1_23_1","first-page":"141","article-title":"Terminal deletion of the long arm of chromosome 10: q26 to qter. 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