{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T07:40:06Z","timestamp":1697701206445},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2007,12,11]],"date-time":"2007-12-11T00:00:00Z","timestamp":1197331200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Down syndrome is the most frequent autosome aneuploidy in live newborns. It was recently proposed that pericentromeric cryptic translocations might be a cause of chromosome nondisjunction. We describe here a phenotypically normal subject with a cryptic translocation involving the short arms of chromosomes 13 or 21 and 22, who had a son with Down syndrome. Fluorescent in situ hybridization (FISH) on paternal metaphase chromosomes showed a chromosome 22 centromere positive for both 13\/21 and 14\/22 centromeric probes. The same probes hybridized on different and contiguous sites of chromatin fibers, eliminating cross\u2010hybridization artifacts. This confirmed the presence of a cryptic translocation generating a dicentric chromosome 22: fib ish dic(21;22)(21pter\u2009\u2192\u200921q10::22q10\u2009\u2192\u200922qter)(D13\/21Z1+;D14\/22Z1+). Microsatellite STR segregation analysis confirmed the paternal origin of the additional chromosome 21 in the Down syndrome patient. To determine whether the father showed a higher\u2010than\u2010normal frequency of chromosome 21 nondisjunction, FISH analysis of spermatozoa was performed using a sequence specific probe (21q22.13\u2013q22.2). The frequency of disomy 21 spermatozoa was twofold higher in the cryptic translocation carrier as compared to normal subjects (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.014), suggesting that the rearrangement favored the nondisjunction of chromosome 21. This is the first report associating a pericentromeric cryptic translocation of acrocentric chromosomes with the generation of aneuploidy, supporting the hypothesis that this type of rearrangement may contribute to abnormal chromosomal segregation. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32000","type":"journal-article","created":{"date-parts":[[2007,12,11]],"date-time":"2007-12-11T23:16:15Z","timestamp":1197414975000},"page":"97-102","source":"Crossref","is-referenced-by-count":5,"title":["Acrocentric cryptic translocation associated with nondisjunction of chromosome 21"],"prefix":"10.1002","volume":"146A","author":[{"given":"Sandra","family":"Ramos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel Angel","family":"Alc\u00e1ntara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bertha","family":"Molina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria","family":"del Castillo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"S\u00e1nchez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Frias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,12,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199608)16:8<769::AID-PD905>3.0.CO;2-9"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00212026"},{"key":"e_1_2_7_4_1","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1007\/s00439-002-0887-z","article-title":"A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities","volume":"112","author":"Cockwell AE","year":"2003","journal-title":"Hum Genet"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000133632"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1383-5718(02)00163-8"},{"key":"e_1_2_7_7_1","first-page":"44","article-title":"NOVP chemotherapy for Hodgkin's disease transiently induces sperm aneuploidies associated with major clinical aneuploidy syndromes involving chromosomes X, Y, 18 and 21","volume":"63","author":"Frias S","year":"2003","journal-title":"Cancer Res"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00512.x"},{"key":"e_1_2_7_9_1","first-page":"249","volume-title":"Chromosome abnormalities and genetic counseling","author":"Gardner RJM","year":"2004"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0070-2153(08)60181-7"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/35066065"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.9.1391"},{"key":"e_1_2_7_13_1","unstructured":"Oncor Inc.1996.Chromosomein situhybridization system. 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