{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:44:03Z","timestamp":1764171843559},"reference-count":46,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,1,12]],"date-time":"2006-01-12T00:00:00Z","timestamp":1137024000000},"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":[[2006,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We performed the segregation analysis of a relatively large pedigree of t(7;13)(q34;q13) carriers together with the sperm karyotype analysis of the one carrier using a tri\u2010color fluorescence in situ hybridization (FISH) method. The risk assessments for unfavorable pregnancy outcomes in a series of 36 pregnancies in eight reciprocal chromosome translocation (RCT) couples of carriers were estimated directly from a pedigree after ascertainment correction. The individual probability rate for unbalanced child was predicted according to Stengel\u2010Rutkowski and co\u2010workers. The unbalanced karyotypes in the form of monosomy 7q34\u2009\u2192\u2009qter and trisomy 13q13\u2009\u2192\u2009qter were detected among stillborn\/early death newborns with holoprosencephaly (HPE), cyclopia and other malformations. Based on clinical description of unkaryotyped stillbirth progeny, it can be assumed that the phenotype distinctions were connected with the unbalanced karyotype from 2:2 segregation (monosomy 7q with trisomy 13q) and 3:1 segregation as interchange trisomy 13 (Patau syndrome). Probability rates for miscarriages, stillbirth\/early death were 12.9\u2009\u00b1\u20096% (4\/31) and 29\u2009\u00b1\u20098.2% (9\/31), respectively. The results of the meiotic segregation pattern indicated the rate of unbalanced spermatozoa for about 60%, with the unusual high rate (29.4%) of 3:1 segregant (i.e., 13.4% of the tertiary segregation and 16% of the interchange segregation). Adjacent\u20101 segregation followed with 23.5% and adjacent\u20102 followed with 7.2% of analyzed spermatozoa. The high rate of unbalanced gametes in comparison to the number of stillborn\/early death and miscarriages detected in pedigree suggests a strong selection against unbalanced chromosomal constitutions during fetal development. It corresponds to a very small probability rate (about 0.3%) of viable unbalanced progeny from 3:1 meiotic segregation predicted for maternal carriers. This knowledge can be used in genetic counseling of families with similar RCT ascertained in a different way. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31083","type":"journal-article","created":{"date-parts":[[2006,1,12]],"date-time":"2006-01-12T21:49:54Z","timestamp":1137102594000},"page":"245-256","source":"Crossref","is-referenced-by-count":17,"title":["Risk evaluation of carriers with chromosome reciprocal translocation t(7;13)(q34;q13) and concomitant meiotic segregation analyzed by FISH on ejaculated spermatozoa"],"prefix":"10.1002","volume":"140A","author":[{"given":"Alina T.","family":"Midro","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Wiland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Panasiuk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryszard","family":"Le\u015bniewicz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maciej","family":"Kurpisz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,1,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/303052"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb03274.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.11.899"},{"key":"e_1_2_6_5_1","first-page":"86","volume-title":"Methods in mammalian embriology","author":"Biggers JD","year":"1971"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/2484"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1054\/jcms.2001.0202"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340229"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1939-4640.2002.tb02335.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960823)64:3<465::AID-AJMG4>3.0.CO;2-O"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00179.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000133997"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050977"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000015476"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb02615.x"},{"key":"e_1_2_6_16_1","volume-title":"Chromosome abnormalities and Genetic Counseling","author":"Gardner RJ","year":"2004"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/17.2.325"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050459"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400216"},{"key":"e_1_2_6_20_1","volume-title":"Recommendations of the International Standing Committe on Human Cytogenetic Nomenclature","author":"ISCN","year":"1995"},{"key":"e_1_2_6_21_1","volume-title":"The cytogenetisc of mammalian autosomal rearrangements","author":"Jalbert P","year":"1988"},{"key":"e_1_2_6_22_1","first-page":"111","article-title":"Holoprosencephaly in a fetus with a 46,XX,der(7),t(q36.1;p12)mat karyotype","volume":"33","author":"Kleczkowska A","year":"1990","journal-title":"Ann Genet"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350229"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.8.561"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050670"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050719"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1992.tb03646.x"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.580212.x"},{"issue":"3","key":"e_1_2_6_29_1","first-page":"287","article-title":"Holoprosencephaly: The Maastricht experience","volume":"12","author":"Moog U","year":"2001","journal-title":"Genet Counseling"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.2741\/Nanni"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01213097"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.570510.x"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-357"},{"key":"e_1_2_6_34_1","unstructured":"SchinzelA.2001.Catoloque of unbalanced chromosome aberrations in man. 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