{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:24Z","timestamp":1761717984398},"reference-count":56,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,2,28]],"date-time":"2006-02-28T00:00:00Z","timestamp":1141084800000},"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":[[2006,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To present the prenatal findings and molecular cytogenetic analyses of partial trisomy 12q and partial monosomy 21q, and a review of the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Amniocentesis was performed at 23 gestational weeks in a 33\u2010year\u2010old woman because of abnormal sonographic findings. Amniocentesis revealed a derivative chromosome 21, or der(21), with a deletion on the region of 21q22.2 and an addendum of a small chromosomal segment of unknown origin. The maternal karyotype was subsequently found to be 46,XX,t(12;21)(q24.32;q22.2). Level II ultrasound showed microcephaly, micrognathia, a ventricular septal defect, and rocker\u2010bottom feet. The pregnancy was terminated. A malformed infant was delivered without the phenotype of holoprosencephaly (HPE). Fluorescence <jats:italic>in situ<\/jats:italic> hybridization (FISH) and polymorphic DNA markers were used to investigate the involved chromosomal segments.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>FISH study showed the absence of the signal of 21q subtelomeric probe and the presence of the signal of 12q subtelomeric probe in the der(21).The fetal karyotype was 46,XY,der(21) t(12;21)(q24.32;q22.2)mat. Genetic marker analysis showed a deletion at 21q22.2 and a breakpoint between D21S156 (present) and D21S1245 (absent). The deleted segment was measured about 4.5 Mb encompassing the HPE critical region.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Molecular genetic analyses help in determining the prenatally detected unbalanced cryptic translocation as well as parental balanced subtle translocation. A duplication of 12q24.32\u2192qter and a deletion of 21q22.2\u2192qter may be associated with prenatal sonographic findings of microcephaly, borderline ventriculomegaly and cerebellar hypoplasia, micrognathia, a ventricular septal defect, and rocker\u2010bottom feet. Haploinsufficiency of the HPE critical region at 21q22.3 may not cause an HPE phenotype. Copyright \u00a9 2006 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.1399","type":"journal-article","created":{"date-parts":[[2006,2,28]],"date-time":"2006-02-28T11:48:17Z","timestamp":1141127297000},"page":"313-320","source":"Crossref","is-referenced-by-count":9,"title":["Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32\u2192qter) and partial monosomy 21q (21q22.2\u2192qter)"],"prefix":"10.1002","volume":"26","author":[{"given":"Chih\u2010Ping","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Schu\u2010Rern","family":"Chern","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chyi\u2010Chyang","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tzu\u2010Hao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yueh\u2010Chun","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lie\u2010Jiau","family":"Hsieh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen\u2010Chi","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui\u2010Min","family":"Hua","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wayseen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,2,28]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.4.371"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb02766.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30976"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000263552"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb02637.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.684"},{"key":"e_1_2_1_8_1","first-page":"437","article-title":"De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay","volume":"15","author":"Chen CP","year":"2004","journal-title":"Genet Couns"},{"key":"e_1_2_1_9_1","first-page":"251","article-title":"Partial distal 12q trisomy","volume":"23","author":"De Muelenaere A","year":"1980","journal-title":"Ann Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.1.70"},{"key":"e_1_2_1_11_1","first-page":"175","article-title":"A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype","volume":"40","author":"El\u2010Shanti H","year":"1997","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360312"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070206"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00844.x"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1973.tb00601.x"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.11.3.299"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb03357.x"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01871255"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30098"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199307000-00015"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1992.tb03223.x"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580110"},{"key":"e_1_2_1_23_1","first-page":"A111","article-title":"A familial (10;21) translocation resulting in multiple congenital anomalies due to partial 10q duplication and partial 21q deletion","volume":"43","author":"Kurczynski TW","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20450"},{"key":"e_1_2_1_25_1","first-page":"155","article-title":"Partial monosomy 11q and trisomy 12q: variable expression in two siblings","volume":"14","author":"Lukusa T","year":"2003","journal-title":"Genet Couns"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.3109\/01677068509100147"},{"key":"e_1_2_1_27_1","first-page":"997","article-title":"Possible narrowed assignment of the loci of monosomy 21\u2010associated microcephaly and intrauterine growth retardation to a 1.2 Mb segment at 21q22.2","volume":"60","author":"Matsumoto N","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01876526"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240405"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320100408"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1086\/344412"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(00)00084-8"},{"key":"e_1_2_1_33_1","first-page":"1074","article-title":"Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome","volume":"57","author":"Muenke M","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_34_1","first-page":"494","article-title":"Agnathia\u2010holoprosencephaly associated with a 46,XX,\u221221,+t(21q;21q) karyotype","volume":"55","author":"Niedermeyer KK","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.3.218"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.2.154"},{"key":"e_1_2_1_37_1","first-page":"133A","article-title":"Trisomy 12q24\u2192qter","volume":"33","author":"Pai GS","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_38_1","first-page":"1240","article-title":"No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in \u201cmirror\u201d duplications of chromosome 21","volume":"51","author":"Pangalos C","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1164"},{"key":"e_1_2_1_40_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442594"},{"key":"e_1_2_1_41_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.7.604"},{"key":"e_1_2_1_42_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.2.86"},{"key":"e_1_2_1_43_1","first-page":"119","volume-title":"New Chromosomal Syndrome","author":"Prieur M","year":"1977"},{"key":"e_1_2_1_44_1","first-page":"234","article-title":"\u201cPure\u201d monosomy 21pter\u2192q21 in a girl born to a couple 46,XX,t(14;21)(p12;q22) and 46,XY,t(15;18)(q32;q22)","volume":"26","author":"Rivera H","year":"1983","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_45_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.15.5.375"},{"key":"e_1_2_1_46_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.6.470"},{"key":"e_1_2_1_47_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1993.tb03869.x"},{"key":"e_1_2_1_48_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273000"},{"key":"e_1_2_1_49_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.1.73"},{"key":"e_1_2_1_50_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00369.x"},{"key":"e_1_2_1_51_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590209"},{"key":"e_1_2_1_52_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.11.e72"},{"key":"e_1_2_1_53_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200008)16:2<99::AID-HUMU2>3.0.CO;2-0"},{"key":"e_1_2_1_54_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1998.tb03708.x"},{"key":"e_1_2_1_55_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00272832"},{"key":"e_1_2_1_56_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00327128"},{"key":"e_1_2_1_57_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.2.144"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1399","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1399","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T18:29:59Z","timestamp":1700072999000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1399"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,2,28]]},"references-count":56,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2006,4]]}},"alternative-id":["10.1002\/pd.1399"],"URL":"https:\/\/doi.org\/10.1002\/pd.1399","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,2,28]]}}}