title: Prenatal diagnosis of occipital encephalocele, mega-cisterna magna, mesomelic shortening, and clubfeet associated with pure tetrasomy 20p.
abstract: We present the first case of a fetus with pure tetrasomy 20p proven by cord-blood sampling at 24 weeks of gestation. This case was diagnosed in utero with multiple congenital anomalies including occipital encephalocele, mega-cisterna magna, mesomelic shortening, and clubfeet. An analysis of GTG-banded chromosomes of 20 metaphase cells was performed. Female karyotype [47,XX, +i(20)(p10)] was revealed in all cells. Pure tetrasomy 20p was confirmed using fluorescent in situ hybridization (FISH) with a telomere probe for chromosome 20p in all seven metaphase cells. The pregnancy was terminated because of associated multiple anomalies and severe oligohydramnios. The postmortem examination confirmed the prenatal diagnosis.
authors.affiliation: Department of Obstetrics and Gynecology, Veterans General Hospital-Taipei, 201 Shih-Pai Road, Section 2, Taipei, Taiwan, ROC. ycwu@vghtpe.gov.tw
authors.forename: Yi-Cheng
authors.initials: YC
authors.lastname: Wu
authors.forename: Jye Siung
authors.initials: JS
authors.lastname: Fang
authors.forename: Kuei-Fang
authors.initials: KF
authors.lastname: Lee
authors.forename: Judy
authors.initials: J
authors.lastname: Estipona
authors.forename: Man-Li
authors.initials: ML
authors.lastname: Yang
authors.forename: Chiou-Chung
authors.initials: CC
authors.lastname: Yuan
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000025:Abortion, Eugenic; D000328:Adult; D000782:Aneuploidy; D002871:Chromosome Banding; D002890:Chromosomes, Human, Pair 20; D002946:Cisterna Magna / Q000002:abnormalities*; D003025:Clubfoot / Q000175:diagnosis* / Q000235:genetics; D004677:Encephalocele / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005312:Fetal Blood / Q000166:cytology; D006801:Humans; D018404:Isochromosomes; D008214:Lymphocytes / Q000166:cytology; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D032681:Spectral Karyotyping