title: Prenatal diagnosis of de novo partial trisomy 18p and partial monosomy 18q recurrent in a family with fatal aortic coarctation.
abstract: Aortic coarctation is a life-threatening defect when it occurs with cardiorespiratory failure. Its genetic cause remains unknown. A woman was pregnant twice, both with male fetuses that had partial trisomy 18p, partial monosomy 18q, and aortic coarctation. The syndrome may relate to the aortic coarctation and pulmonary hypoplasia and is life-threatening. ArrayCGH analysis suggested a de novo 17.7 Mb deletion of chromosome 18q21.33→qter (58,413,193 bp to 76,116,029 bp) and a de novo 12.4 Mb duplication of chromosome 18pter→p11.21 (1,543 bp to 12,438,430 bp) at the telomeric end of chromosome 18. To the best of our knowledge, the present chromosomal breakpoint with rearrangement has not been previously described. This chromosome aberration may be responsible for this syndrome.
authors.affiliation: Center for Prenatal Diagnosis, The Department of Obstetrics and Gynecology, Southwest Hospital, Third Military Medical University, ChongQing 400038, People's Republic of China.
authors.forename: Hua
authors.initials: H
authors.lastname: Hu
authors.forename: Jia
authors.initials: J
authors.lastname: Hao
authors.forename: Hong
authors.initials: H
authors.lastname: Yao
authors.forename: Qing
authors.initials: Q
authors.lastname: Chang
authors.forename: Rui
authors.initials: R
authors.lastname: Li
authors.forename: Xiaohang
authors.initials: X
authors.lastname: Zhang
authors.forename: Zhiqing
authors.initials: Z
authors.lastname: Liang
mesh_terms: D000328:Adult; D001017:Aortic Coarctation / Q000175:diagnosis* / Q000235:genetics; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012008:Recurrence; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult