{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T16:53:20Z","timestamp":1767977600383,"version":"3.49.0"},"reference-count":30,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2001,4,10]],"date-time":"2001-04-10T00:00:00Z","timestamp":986860800000},"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":[[2001,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A prenatal diagnosis of partial monosomy 18p(18p11.2\u2192pter) and trisomy 21q(21q22.3\u2192qter) in a fetus with alobar holoprosencephaly (HPE) and premaxillary agenesis (PMA) but without the classical Down syndrome phenotype is reported. A 27\u2010year\u2010old primigravida woman was referred for genetic counselling at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. Level II ultrasonograms manifested alobar HPE and median orofacial cleft. Cytogenetic analysis and fluorescence <jats:italic>in situ<\/jats:italic> hybridization (FISH) on cells obtained from amniocentesis revealed partial monosomy 18p and a cryptic duplication of 21q,46,XY,der(18)t(18;21)(p11.2;q22.3), resulting from a maternal t(18;21) reciprocal translocation. The breakpoints were ascertained by molecular genetic analysis. The pregnancy was terminated. Autopsy showed alobar HPE with PMA, pituitary dysplasia, clinodactyly and classical 18p deletion phenotype but without the presence of major typical phenotypic features of Down syndrome. The phenotype of this antenatally diagnosed case is compared with those observed in six previously reported cases with monosomy 18p due to 18;21 translocation. The present study is the first report of concomitant deletion of HPE critical region of chromosome 18p11.3 and cryptic duplication of a small segment of distal chromosome 21q22.3 outside Down syndrome critical region. The present study shows that cytogenetic analyses are important in detecting chromosomal aberrations in pregnancies with prenatally detected craniofacial abnormalities, and adjunctive molecular investigations are useful in elucidating the genetic pathogenesis of dysmorphism. Copyright \u00a9 2001 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.63","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T22:08:54Z","timestamp":1030313334000},"page":"346-350","source":"Crossref","is-referenced-by-count":26,"title":["Prenatal diagnosis of partial monosomy 18p(18p11.2\u2192pter) and trisomy 21q(21q22.3\u2192qter) with alobar holoprosencephaly and premaxillary agenesis"],"prefix":"10.1002","volume":"21","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":"Wayseen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen\u2010Chi","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen\u2010Lin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li\u2010Feng","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tung\u2010Yao","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chin\u2010Yuan","family":"Tzen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,4,10]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1998.5335"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.9.671"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000313)91:2<116::AID-AJMG7>3.0.CO;2-Q"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.52.31178"},{"key":"e_1_2_1_6_1","first-page":"A606","article-title":"A small deletion in the putative \u2018critical region\u2019 in chromosome 13q32 in a fetus with isolated holoprosencephaly","volume":"57","author":"Brown SA","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/2484"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1982.tb13675.x"},{"key":"e_1_2_1_9_1","first-page":"107","article-title":"Acrocentric\/18p translocation in two mentally retarded males: delineation of the adult phenotype","volume":"29","author":"Fryns JP","year":"1986","journal-title":"Ann Genet"},{"key":"e_1_2_1_10_1","first-page":"A32","article-title":"Mutations in the transcription factor TGIF in holoprosencephaly","volume":"63","author":"Gripp KW","year":"1998","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/76074"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0393-247"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.11.4997"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.5.5.427"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1006\/sedb.1994.1038"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(00)00084-8"},{"key":"e_1_2_1_17_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_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.13.2479"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<315::AID-AJMG10>3.0.CO;2-Y"},{"key":"e_1_2_1_20_1","first-page":"1080","article-title":"Physical mapping of the holoprosencephaly critical region in 18p11.3","volume":"57","author":"Overhauser J","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005406719292"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050486"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.2.223"},{"key":"e_1_2_1_24_1","first-page":"604","volume-title":"Catalogue of Unbalanced Chromosome Aberrations in Man","author":"Schinzel A","year":"1983"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1159\/000134027"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961122)67:6<560::AID-AJMG9>3.0.CO;2-L"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420510605"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400125"},{"key":"e_1_2_1_29_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_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/9718"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970905)71:4<463::AID-AJMG17>3.0.CO;2-E"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.63","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.63","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T18:20:54Z","timestamp":1696616454000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.63"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,4,10]]},"references-count":30,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2001,5]]}},"alternative-id":["10.1002\/pd.63"],"URL":"https:\/\/doi.org\/10.1002\/pd.63","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,4,10]]}}}