title: Prenatal diagnosis of partial trisomy 12q: clinical presentations and outcome.
abstract: We present a pregnant woman with a fetus prenatally diagnosed as 46, XY,der(4) t(4;12) (q35.1; q21.2). This defect resulted from the unbalanced segregation of a paternal balanced translocation, t(4;12) (q35.1; q21.2). Prenatal ultrasound revealed borderline ventriculomegaly, a thick nuchal fold, pericardial effusion, arthrogryposis, a single umbilical artery, and micropenis. Fluorescence in situ hybridization (FISH) with whole chromosome painting probe and microarray-based comparative genomic hybridization analysis further confirmed chromosomal gain of terminal 12q. The woman had her pregnancy terminated at 20 weeks of gestational age. When compared with previously reported cases, the proband had characteristics common to the phenotypes of partial trisomy 12q, including an abnormal facial appearance and multiple anomalies. Additionally, this case had previously unreported phenotypes, such as arthrogryposis, a single umbilical artery, and a micropenis. Regarding the outcome of partial trisomy 12q, the fetuses carrying trisomies distal to 12q24 have a good chance of extended postnatal survival. In contrast, the cases with trisomies involving a larger amount of 12q likely die prenatally or within a few days after birth.
authors.affiliation: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-ko Medical Center, Kwei-Shan, Tao-Yuan, Taiwan.
authors.forename: Hsiu-Huei
authors.initials: HH
authors.lastname: Peng
authors.forename: Tzu-Hao
authors.initials: TH
authors.lastname: Wang
authors.forename: Ding-Wei
authors.initials: DW
authors.lastname: Hsueh
authors.forename: Shuenn-Dyh
authors.initials: SD
authors.lastname: Chang
authors.forename: Yung-Kuei
authors.initials: YK
authors.lastname: Soong
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000028:Abortion, Induced; D000328:Adult; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D005220:Fathers; D005260:Female; D005865:Gestational Age; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic; D014314:Trisomy; D016216:Ultrasonography, Prenatal